Canonical Allele Identifier: CA357204854
Gene: GC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71756815A>G , CM000666.2:g.71756815A>G GRCh38
NC_000004.11:g.72622532A>G , CM000666.1:g.72622532A>G GRCh37
NC_000004.10:g.72841396A>G NCBI36
NG_012837.2:g.53706T>C
NG_012837.3:g.53706T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.931T>C MANE Select ENSP00000273951.8:p.Cys311Arg
ENST00000273951.12:c.931T>C ENSP00000273951.8:p.Cys311Arg
ENST00000503472.5:n.815T>C
ENST00000504199.5:c.988T>C ENSP00000421725.1:p.Cys330Arg
ENST00000509740.5:c.931T>C ENSP00000422664.1:p.Cys311Arg
ENST00000513476.5:c.931T>C ENSP00000426683.1:p.Cys311Arg
NM_000583.3:c.931T>C NP_000574.2:p.Cys311Arg
NM_001204306.1:c.931T>C NP_001191235.1:p.Cys311Arg
NM_001204307.1:c.988T>C NP_001191236.1:p.Cys330Arg
XM_006714177.2:c.931T>C XP_006714240.1:p.Cys311Arg
XM_006714177.3:c.931T>C XP_006714240.1:p.Cys311Arg
NM_000583.4:c.931T>C MANE Select NP_000574.2:p.Cys311Arg