Canonical Allele Identifier: CA357199240
Gene: GC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71741849C>G , CM000666.2:g.71741849C>G GRCh38
NC_000004.11:g.72607566C>G , CM000666.1:g.72607566C>G GRCh37
NC_000004.10:g.72826430C>G NCBI36
NG_012837.2:g.68672G>C
NG_012837.3:g.68672G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.*47G>C MANE Select ENSP00000273951.8:n.*47G>C
ENST00000273951.12:c.*47G>C ENSP00000273951.8:n.*47G>C
ENST00000503364.5:n.145G>C
ENST00000503472.5:n.1356G>C
ENST00000504199.5:c.*47G>C ENSP00000421725.1:n.*47G>C
ENST00000509740.5:c.*295G>C ENSP00000422664.1:n.*295G>C
ENST00000513476.5:c.1417G>C ENSP00000426683.1:p.Gly473Arg
NM_000583.3:c.*47G>C NP_000574.2:n.*47G>C
NM_001204306.1:c.*47G>C NP_001191235.1:n.*47G>C
NM_001204307.1:c.*47G>C NP_001191236.1:n.*47G>C
XM_006714177.2:c.*61G>C XP_006714240.1:n.*61G>C
XM_006714177.3:c.*61G>C XP_006714240.1:n.*61G>C
NM_000583.4:c.*47G>C MANE Select NP_000574.2:n.*47G>C