Canonical Allele Identifier: CA410522695
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990404C>G , CM000683.2:g.45990404C>G GRCh38
NC_000021.8:g.47410318C>G , CM000683.1:g.47410318C>G GRCh37
NC_000021.7:g.46234746C>G NCBI36
NG_008674.1:g.13656C>G , LRG_475:g.13656C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.984C>G MANE Select ENSP00000355180.3:p.Asp328Glu
ENST00000361866.7:c.984C>G ENSP00000355180.3:p.Asp328Glu
ENST00000612273.1:c.984C>G ENSP00000483630.1:p.Asp328Glu
NM_001848.2:c.984C>G , LRG_475t1:c.984C>G NP_001839.2:p.Asp328Glu
NM_001848.3:c.984C>G MANE Select NP_001839.2:p.Asp328Glu