Canonical Allele Identifier: CA1063992499
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1578287528
gnomAD v3: 4-71756091-A-C
gnomAD v4: 4-71756091-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71756091A>C , CM000666.2:g.71756091A>C GRCh38
NC_000004.11:g.72621808A>C , CM000666.1:g.72621808A>C GRCh37
NC_000004.10:g.72840672A>C NCBI36
NG_012837.2:g.54430T>G
NG_012837.3:g.54430T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.1034+621T>G MANE Select ENSP00000273951.8:n.1034+621T>G
ENST00000273951.12:c.1034+621T>G ENSP00000273951.8:n.1034+621T>G
ENST00000503472.5:n.918+621T>G
ENST00000504199.5:c.1091+621T>G ENSP00000421725.1:n.1091+621T>G
ENST00000509740.5:c.1034+621T>G ENSP00000422664.1:n.1034+621T>G
ENST00000513476.5:c.1034+621T>G ENSP00000426683.1:n.1034+621T>G
NM_000583.3:c.1034+621T>G NP_000574.2:n.1034+621T>G
NM_001204306.1:c.1034+621T>G NP_001191235.1:n.1034+621T>G
NM_001204307.1:c.1091+621T>G NP_001191236.1:n.1091+621T>G
XM_006714177.2:c.1034+621T>G XP_006714240.1:n.1034+621T>G
XM_006714177.3:c.1034+621T>G XP_006714240.1:n.1034+621T>G
NM_000583.4:c.1034+621T>G MANE Select NP_000574.2:n.1034+621T>G