Canonical Allele Identifier: CA410516019
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984360C>A , CM000683.2:g.45984360C>A GRCh38
NC_000021.8:g.47404274C>A , CM000683.1:g.47404274C>A GRCh37
NC_000021.7:g.46228702C>A NCBI36
NG_008674.1:g.7612C>A , LRG_475:g.7612C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.319C>A MANE Select ENSP00000355180.3:p.Pro107Thr
ENST00000361866.7:c.319C>A ENSP00000355180.3:p.Pro107Thr
ENST00000612273.1:c.319C>A ENSP00000483630.1:p.Pro107Thr
NM_001848.2:c.319C>A , LRG_475t1:c.319C>A NP_001839.2:p.Pro107Thr
NM_001848.3:c.319C>A MANE Select NP_001839.2:p.Pro107Thr