Canonical Allele Identifier: CA410522656
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990393C>A , CM000683.2:g.45990393C>A GRCh38
NC_000021.8:g.47410307C>A , CM000683.1:g.47410307C>A GRCh37
NC_000021.7:g.46234735C>A NCBI36
NG_008674.1:g.13645C>A , LRG_475:g.13645C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.973C>A MANE Select ENSP00000355180.3:p.Arg325Ser
ENST00000361866.7:c.973C>A ENSP00000355180.3:p.Arg325Ser
ENST00000612273.1:c.973C>A ENSP00000483630.1:p.Arg325Ser
NM_001848.2:c.973C>A , LRG_475t1:c.973C>A NP_001839.2:p.Arg325Ser
NM_001848.3:c.973C>A MANE Select NP_001839.2:p.Arg325Ser