This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Revel Score:
ENST00000360256 (MANE Select)
0.960
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154902146A>T , CM000685.2:g.154902146A>T | GRCh38 |
| NC_000023.10:g.154130421A>T , CM000685.1:g.154130421A>T | GRCh37 |
| NC_000023.9:g.153783615A>T | NCBI36 |
| NG_011403.1:g.125578T>A | |
| NG_011403.2:g.125578T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6020T>A MANE Select | ENSP00000353393.4:p.Met2007Lys | |
| ENST00000360256.8:c.6020T>A | ENSP00000353393.4:p.Met2007Lys | |
| NM_000132.3:c.6020T>A | NP_000123.1:p.Met2007Lys | |
| XM_011531126.1:c.5915T>A | XP_011529428.1:p.Met1972Lys | |
| NM_000132.4:c.6020T>A MANE Select | NP_000123.1:p.Met2007Lys |