Canonical Allele Identifier: CA1063992359

Gene: GC

Linked Data

• dbSNP Id: rs546482612
• gnomAD v3: 4-71755753-T-A
• gnomAD v4: 4-71755753-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71755753T>A , CM000666.2:g.71755753T>A	GRCh38
NC_000004.11:g.72621470T>A , CM000666.1:g.72621470T>A	GRCh37
NC_000004.10:g.72840334T>A	NCBI36
NG_012837.2:g.54768A>T
NG_012837.3:g.54768A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.1035-646A>T MANE Select	ENSP00000273951.8:n.1035-646A>T
ENST00000273951.12:c.1035-646A>T	ENSP00000273951.8:n.1035-646A>T
ENST00000503472.5:n.919-646A>T
ENST00000504199.5:c.1092-646A>T	ENSP00000421725.1:n.1092-646A>T
ENST00000509740.5:c.1034+959A>T	ENSP00000422664.1:n.1034+959A>T
ENST00000513476.5:c.1035-646A>T	ENSP00000426683.1:n.1035-646A>T
NM_000583.3:c.1035-646A>T	NP_000574.2:n.1035-646A>T
NM_001204306.1:c.1035-646A>T	NP_001191235.1:n.1035-646A>T
NM_001204307.1:c.1092-646A>T	NP_001191236.1:n.1092-646A>T
XM_006714177.2:c.1035-646A>T	XP_006714240.1:n.1035-646A>T
XM_006714177.3:c.1035-646A>T	XP_006714240.1:n.1035-646A>T
NM_000583.4:c.1035-646A>T MANE Select	NP_000574.2:n.1035-646A>T