Canonical Allele Identifier: CA357204922
Gene: GC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71756846A>C , CM000666.2:g.71756846A>C GRCh38
NC_000004.11:g.72622563A>C , CM000666.1:g.72622563A>C GRCh37
NC_000004.10:g.72841427A>C NCBI36
NG_012837.2:g.53675T>G
NG_012837.3:g.53675T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.900T>G MANE Select ENSP00000273951.8:p.Cys300Trp
ENST00000273951.12:c.900T>G ENSP00000273951.8:p.Cys300Trp
ENST00000503472.5:n.784T>G
ENST00000504199.5:c.957T>G ENSP00000421725.1:p.Cys319Trp
ENST00000509740.5:c.900T>G ENSP00000422664.1:p.Cys300Trp
ENST00000513476.5:c.900T>G ENSP00000426683.1:p.Cys300Trp
NM_000583.3:c.900T>G NP_000574.2:p.Cys300Trp
NM_001204306.1:c.900T>G NP_001191235.1:p.Cys300Trp
NM_001204307.1:c.957T>G NP_001191236.1:p.Cys319Trp
XM_006714177.2:c.900T>G XP_006714240.1:p.Cys300Trp
XM_006714177.3:c.900T>G XP_006714240.1:p.Cys300Trp
NM_000583.4:c.900T>G MANE Select NP_000574.2:p.Cys300Trp