This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA1703613673
Community Standard Title: NM_000162.5(GCK):c.864-321C=
Gene: GCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146939G= , CM000669.2:g.44146939G= GRCh38
NC_000007.13:g.44186538G= , CM000669.1:g.44186538G= GRCh37
NC_000007.12:g.44153063G= NCBI36
NG_008847.1:g.47485C=
NG_008847.2:g.56232C=

Transcript Alleles

HGVS Amino-acid Change
NM_000162.5:c.864-321C= MANE Select NP_000153.1:n.864-321C=
ENST00000403799.8:c.864-321C= MANE Select ENSP00000384247.3:n.864-321C=
NM_000162.3:c.864-321C= NP_000153.1:n.864-321C=
NM_000162.4:c.864-321C= NP_000153.1:n.864-321C=
NM_001354800.1:c.864-321C= NP_001341729.1:n.864-321C=
NM_033507.1:c.867-321C= NP_277042.1:n.867-321C=
NM_033507.2:c.867-321C= NP_277042.1:n.867-321C=
NM_033507.3:c.867-321C= NP_277042.1:n.867-321C=
NM_033508.1:c.861-321C= NP_277043.1:n.861-321C=
NM_033508.2:c.861-321C= NP_277043.1:n.861-321C=
NM_033508.3:c.861-321C= NP_277043.1:n.861-321C=
ENST00000345378.6:c.867-321C= ENSP00000223366.2:n.867-321C=
ENST00000345378.7:c.867-321C= ENSP00000223366.2:n.867-321C=
ENST00000395796.7:c.861-321C= ENSP00000379142.3:n.861-321C=
ENST00000395796.8:c.*862-321C= ENSP00000379142.4:n.*862-321C=
ENST00000403799.7:c.864-321C= ENSP00000384247.3:n.864-321C=
ENST00000437084.1:c.813-321C= ENSP00000402840.1:n.813-321C=
ENST00000473353.1:n.161+26C=
ENST00000616242.4:c.861-321C= ENSP00000482149.1:n.861-321C=
ENST00000616242.5:c.854-321C= ENSP00000482149.2:n.854-321C=
ENST00000671824.1:c.927-321C= ENSP00000500264.1:n.927-321C=
ENST00000673284.1:c.864-321C= ENSP00000499852.1:n.864-321C=
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