Canonical Allele Identifier: CA357199234
Gene: GC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71741848C>G , CM000666.2:g.71741848C>G GRCh38
NC_000004.11:g.72607565C>G , CM000666.1:g.72607565C>G GRCh37
NC_000004.10:g.72826429C>G NCBI36
NG_012837.2:g.68673G>C
NG_012837.3:g.68673G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.*48G>C MANE Select ENSP00000273951.8:n.*48G>C
ENST00000273951.12:c.*48G>C ENSP00000273951.8:n.*48G>C
ENST00000503364.5:n.146G>C
ENST00000503472.5:n.1357G>C
ENST00000504199.5:c.*48G>C ENSP00000421725.1:n.*48G>C
ENST00000509740.5:c.*296G>C ENSP00000422664.1:n.*296G>C
ENST00000513476.5:c.1418G>C ENSP00000426683.1:p.Gly473Ala
NM_000583.3:c.*48G>C NP_000574.2:n.*48G>C
NM_001204306.1:c.*48G>C NP_001191235.1:n.*48G>C
NM_001204307.1:c.*48G>C NP_001191236.1:n.*48G>C
XM_006714177.2:c.*62G>C XP_006714240.1:n.*62G>C
XM_006714177.3:c.*62G>C XP_006714240.1:n.*62G>C
NM_000583.4:c.*48G>C MANE Select NP_000574.2:n.*48G>C