Canonical Allele Identifier: CA357199261
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1467603249
gnomAD v2: 4-72607572-T-A
gnomAD v4: 4-71741855-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71741855T>A , CM000666.2:g.71741855T>A GRCh38
NC_000004.11:g.72607572T>A , CM000666.1:g.72607572T>A GRCh37
NC_000004.10:g.72826436T>A NCBI36
NG_012837.2:g.68666A>T
NG_012837.3:g.68666A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.*41A>T MANE Select ENSP00000273951.8:n.*41A>T
ENST00000273951.12:c.*41A>T ENSP00000273951.8:n.*41A>T
ENST00000503364.5:n.139A>T
ENST00000503472.5:n.1350A>T
ENST00000504199.5:c.*41A>T ENSP00000421725.1:n.*41A>T
ENST00000509740.5:c.*289A>T ENSP00000422664.1:n.*289A>T
ENST00000513476.5:c.1411A>T ENSP00000426683.1:p.Thr471Ser
NM_000583.3:c.*41A>T NP_000574.2:n.*41A>T
NM_001204306.1:c.*41A>T NP_001191235.1:n.*41A>T
NM_001204307.1:c.*41A>T NP_001191236.1:n.*41A>T
XM_006714177.2:c.*55A>T XP_006714240.1:n.*55A>T
XM_006714177.3:c.*55A>T XP_006714240.1:n.*55A>T
NM_000583.4:c.*41A>T MANE Select NP_000574.2:n.*41A>T