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: CA17942006
Community Standard Title: NM_004958.4(MTOR):c.5910+126T>A
Gene: MTOR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11128328A>T , CM000663.2:g.11128328A>T GRCh38
NC_000001.10:g.11188385A>T , CM000663.1:g.11188385A>T GRCh37
NC_000001.9:g.11110972A>T NCBI36
NG_033239.1:g.139224T>A , LRG_734:g.139224T>A

Transcript Alleles

HGVS Amino-acid Change
NM_004958.4:c.5910+126T>A MANE Select NP_004949.1:n.5910+126T>A
ENST00000361445.9:c.5910+126T>A MANE Select ENSP00000354558.4:n.5910+126T>A
NM_001386500.1:c.5910+126T>A NP_001373429.1:n.5910+126T>A
NM_001386501.1:c.4662+126T>A NP_001373430.1:n.4662+126T>A
NM_004958.3:c.5910+126T>A , LRG_734t1:c.5910+126T>A NP_004949.1:n.5910+126T>A
ENST00000361445.8:c.5910+126T>A ENSP00000354558.4:n.5910+126T>A
ENST00000376838.5:c.525+126T>A ENSP00000366034.1:n.525+126T>A
ENST00000703118.1:c.*1285+126T>A ENSP00000515181.1:n.*1285+126T>A
ENST00000703131.1:n.1714+126T>A
ENST00000703139.1:c.547+126T>A
ENST00000703140.1:c.5697+126T>A ENSP00000515197.1:n.5697+126T>A
ENST00000703141.1:c.*1230+126T>A ENSP00000515198.1:n.*1230+126T>A
ENST00000703142.1:c.*2740+126T>A ENSP00000515199.1:n.*2740+126T>A
XM_005263438.1:c.5910+126T>A XP_005263495.1:n.5910+126T>A
XM_005263438.2:c.5910+126T>A XP_005263495.1:n.5910+126T>A
XM_017000900.1:c.5229+126T>A XP_016856389.1:n.5229+126T>A
XM_017000901.1:c.4662+126T>A XP_016856390.1:n.4662+126T>A
XM_024446187.1:c.5910+126T>A XP_024301955.1:n.5910+126T>A
XR_001737087.1:n.6031+126T>A
XR_244786.1:n.6031+126T>A
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