Canonical Allele Identifier: CA357199257
Gene: GC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71741854G>A , CM000666.2:g.71741854G>A GRCh38
NC_000004.11:g.72607571G>A , CM000666.1:g.72607571G>A GRCh37
NC_000004.10:g.72826435G>A NCBI36
NG_012837.2:g.68667C>T
NG_012837.3:g.68667C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.*42C>T MANE Select ENSP00000273951.8:n.*42C>T
ENST00000273951.12:c.*42C>T ENSP00000273951.8:n.*42C>T
ENST00000503364.5:n.140C>T
ENST00000503472.5:n.1351C>T
ENST00000504199.5:c.*42C>T ENSP00000421725.1:n.*42C>T
ENST00000509740.5:c.*290C>T ENSP00000422664.1:n.*290C>T
ENST00000513476.5:c.1412C>T ENSP00000426683.1:p.Thr471Ile
NM_000583.3:c.*42C>T NP_000574.2:n.*42C>T
NM_001204306.1:c.*42C>T NP_001191235.1:n.*42C>T
NM_001204307.1:c.*42C>T NP_001191236.1:n.*42C>T
XM_006714177.2:c.*56C>T XP_006714240.1:n.*56C>T
XM_006714177.3:c.*56C>T XP_006714240.1:n.*56C>T
NM_000583.4:c.*42C>T MANE Select NP_000574.2:n.*42C>T