Canonical Allele Identifier: CA1063993184
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1425938591
gnomAD v3: 4-71758416-T-A
gnomAD v4: 4-71758416-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71758416T>A , CM000666.2:g.71758416T>A GRCh38
NC_000004.11:g.72624133T>A , CM000666.1:g.72624133T>A GRCh37
NC_000004.10:g.72842997T>A NCBI36
NG_012837.2:g.52105A>T
NG_012837.3:g.52105A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.702-245A>T MANE Select ENSP00000273951.8:n.702-245A>T
ENST00000273951.12:c.702-245A>T ENSP00000273951.8:n.702-245A>T
ENST00000503472.5:n.586-245A>T
ENST00000504199.5:c.759-245A>T ENSP00000421725.1:n.759-245A>T
ENST00000509740.5:c.702-245A>T ENSP00000422664.1:n.702-245A>T
ENST00000513476.5:c.702-245A>T ENSP00000426683.1:n.702-245A>T
NM_000583.3:c.702-245A>T NP_000574.2:n.702-245A>T
NM_001204306.1:c.702-245A>T NP_001191235.1:n.702-245A>T
NM_001204307.1:c.759-245A>T NP_001191236.1:n.759-245A>T
XM_006714177.2:c.702-245A>T XP_006714240.1:n.702-245A>T
XM_006714177.3:c.702-245A>T XP_006714240.1:n.702-245A>T
NM_000583.4:c.702-245A>T MANE Select NP_000574.2:n.702-245A>T