Canonical Allele Identifier: CA410522691
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990403A>C , CM000683.2:g.45990403A>C GRCh38
NC_000021.8:g.47410317A>C , CM000683.1:g.47410317A>C GRCh37
NC_000021.7:g.46234745A>C NCBI36
NG_008674.1:g.13655A>C , LRG_475:g.13655A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.983A>C MANE Select ENSP00000355180.3:p.Asp328Ala
ENST00000361866.7:c.983A>C ENSP00000355180.3:p.Asp328Ala
ENST00000612273.1:c.983A>C ENSP00000483630.1:p.Asp328Ala
NM_001848.2:c.983A>C , LRG_475t1:c.983A>C NP_001839.2:p.Asp328Ala
NM_001848.3:c.983A>C MANE Select NP_001839.2:p.Asp328Ala