Canonical Allele Identifier: CA410522652
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990392G>C , CM000683.2:g.45990392G>C GRCh38
NC_000021.8:g.47410306G>C , CM000683.1:g.47410306G>C GRCh37
NC_000021.7:g.46234734G>C NCBI36
NG_008674.1:g.13644G>C , LRG_475:g.13644G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.972G>C MANE Select ENSP00000355180.3:p.Lys324Asn
ENST00000361866.7:c.972G>C ENSP00000355180.3:p.Lys324Asn
ENST00000612273.1:c.972G>C ENSP00000483630.1:p.Lys324Asn
NM_001848.2:c.972G>C , LRG_475t1:c.972G>C NP_001839.2:p.Lys324Asn
NM_001848.3:c.972G>C MANE Select NP_001839.2:p.Lys324Asn