Canonical Allele Identifier: CA1063992258
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs193081680
gnomAD v3: 4-71755589-A-C
gnomAD v4: 4-71755589-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71755589A>C , CM000666.2:g.71755589A>C GRCh38
NC_000004.11:g.72621306A>C , CM000666.1:g.72621306A>C GRCh37
NC_000004.10:g.72840170A>C NCBI36
NG_012837.2:g.54932T>G
NG_012837.3:g.54932T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.1035-482T>G MANE Select ENSP00000273951.8:n.1035-482T>G
ENST00000273951.12:c.1035-482T>G ENSP00000273951.8:n.1035-482T>G
ENST00000503472.5:n.919-482T>G
ENST00000504199.5:c.1092-482T>G ENSP00000421725.1:n.1092-482T>G
ENST00000509740.5:c.1035-1081T>G ENSP00000422664.1:n.1035-1081T>G
ENST00000513476.5:c.1035-482T>G ENSP00000426683.1:n.1035-482T>G
NM_000583.3:c.1035-482T>G NP_000574.2:n.1035-482T>G
NM_001204306.1:c.1035-482T>G NP_001191235.1:n.1035-482T>G
NM_001204307.1:c.1092-482T>G NP_001191236.1:n.1092-482T>G
XM_006714177.2:c.1035-482T>G XP_006714240.1:n.1035-482T>G
XM_006714177.3:c.1035-482T>G XP_006714240.1:n.1035-482T>G
NM_000583.4:c.1035-482T>G MANE Select NP_000574.2:n.1035-482T>G