Canonical Allele Identifier: CA1064015560
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1741195602
gnomAD v3: 4-71741859-T-A
gnomAD v4: 4-71741859-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71741859T>A , CM000666.2:g.71741859T>A GRCh38
NC_000004.11:g.72607576T>A , CM000666.1:g.72607576T>A GRCh37
NC_000004.10:g.72826440T>A NCBI36
NG_012837.2:g.68662A>T
NG_012837.3:g.68662A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.*37A>T MANE Select ENSP00000273951.8:n.*37A>T
ENST00000273951.12:c.*37A>T ENSP00000273951.8:n.*37A>T
ENST00000503364.5:n.135A>T
ENST00000503472.5:n.1346A>T
ENST00000504199.5:c.*37A>T ENSP00000421725.1:n.*37A>T
ENST00000509740.5:c.*285A>T ENSP00000422664.1:n.*285A>T
ENST00000513476.5:c.1407A>T ENSP00000426683.1:p.Gly469=
NM_000583.3:c.*37A>T NP_000574.2:n.*37A>T
NM_001204306.1:c.*37A>T NP_001191235.1:n.*37A>T
NM_001204307.1:c.*37A>T NP_001191236.1:n.*37A>T
XM_006714177.2:c.*51A>T XP_006714240.1:n.*51A>T
XM_006714177.3:c.*51A>T XP_006714240.1:n.*51A>T
NM_000583.4:c.*37A>T MANE Select NP_000574.2:n.*37A>T