Canonical Allele Identifier: CA357199279
Gene: GC HGNC NCBI

Linked Data

gnomAD v4: 4-71741860-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71741860C>A , CM000666.2:g.71741860C>A GRCh38
NC_000004.11:g.72607577C>A , CM000666.1:g.72607577C>A GRCh37
NC_000004.10:g.72826441C>A NCBI36
NG_012837.2:g.68661G>T
NG_012837.3:g.68661G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.*36G>T MANE Select ENSP00000273951.8:n.*36G>T
ENST00000273951.12:c.*36G>T ENSP00000273951.8:n.*36G>T
ENST00000503364.5:n.134G>T
ENST00000503472.5:n.1345G>T
ENST00000504199.5:c.*36G>T ENSP00000421725.1:n.*36G>T
ENST00000509740.5:c.*284G>T ENSP00000422664.1:n.*284G>T
ENST00000513476.5:c.1406G>T ENSP00000426683.1:p.Gly469Val
NM_000583.3:c.*36G>T NP_000574.2:n.*36G>T
NM_001204306.1:c.*36G>T NP_001191235.1:n.*36G>T
NM_001204307.1:c.*36G>T NP_001191236.1:n.*36G>T
XM_006714177.2:c.*50G>T XP_006714240.1:n.*50G>T
XM_006714177.3:c.*50G>T XP_006714240.1:n.*50G>T
NM_000583.4:c.*36G>T MANE Select NP_000574.2:n.*36G>T