Canonical Allele Identifier: CA357205080
Gene: GC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71756910G>T , CM000666.2:g.71756910G>T GRCh38
NC_000004.11:g.72622627G>T , CM000666.1:g.72622627G>T GRCh37
NC_000004.10:g.72841491G>T NCBI36
NG_012837.2:g.53611C>A
NG_012837.3:g.53611C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.836C>A MANE Select ENSP00000273951.8:p.Pro279His
ENST00000273951.12:c.836C>A ENSP00000273951.8:p.Pro279His
ENST00000503472.5:n.720C>A
ENST00000504199.5:c.893C>A ENSP00000421725.1:p.Pro298His
ENST00000509740.5:c.836C>A ENSP00000422664.1:p.Pro279His
ENST00000513476.5:c.836C>A ENSP00000426683.1:p.Pro279His
NM_000583.3:c.836C>A NP_000574.2:p.Pro279His
NM_001204306.1:c.836C>A NP_001191235.1:p.Pro279His
NM_001204307.1:c.893C>A NP_001191236.1:p.Pro298His
XM_006714177.2:c.836C>A XP_006714240.1:p.Pro279His
XM_006714177.3:c.836C>A XP_006714240.1:p.Pro279His
NM_000583.4:c.836C>A MANE Select NP_000574.2:p.Pro279His