Canonical Allele Identifier: CA410516465
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984469G>C , CM000683.2:g.45984469G>C GRCh38
NC_000021.8:g.47404383G>C , CM000683.1:g.47404383G>C GRCh37
NC_000021.7:g.46228811G>C NCBI36
NG_008674.1:g.7721G>C , LRG_475:g.7721G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.428G>C MANE Select ENSP00000355180.3:p.Gly143Ala
ENST00000361866.7:c.428G>C ENSP00000355180.3:p.Gly143Ala
ENST00000612273.1:c.428G>C ENSP00000483630.1:p.Gly143Ala
NM_001848.2:c.428G>C , LRG_475t1:c.428G>C NP_001839.2:p.Gly143Ala
NM_001848.3:c.428G>C MANE Select NP_001839.2:p.Gly143Ala