Canonical Allele Identifier: CA2670940920
Gene: GC HGNC NCBI

Linked Data

gnomAD v4: 4-71746024-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71746024C>A , CM000666.2:g.71746024C>A GRCh38
NC_000004.11:g.72611741C>A , CM000666.1:g.72611741C>A GRCh37
NC_000004.10:g.72830605C>A NCBI36
NG_012837.2:g.64497G>T
NG_012837.3:g.64497G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.*25+127G>T MANE Select ENSP00000273951.8:n.*25+127G>T
ENST00000273951.12:c.*25+127G>T ENSP00000273951.8:n.*25+127G>T
ENST00000503364.5:n.123+127G>T
ENST00000503472.5:n.1334+127G>T
ENST00000504199.5:c.*25+127G>T ENSP00000421725.1:n.*25+127G>T
ENST00000509740.5:c.*273+127G>T ENSP00000422664.1:n.*273+127G>T
ENST00000513476.5:c.1396-4154G>T ENSP00000426683.1:n.1396-4154G>T
NM_000583.3:c.*25+127G>T NP_000574.2:n.*25+127G>T
NM_001204306.1:c.*25+127G>T NP_001191235.1:n.*25+127G>T
NM_001204307.1:c.*25+127G>T NP_001191236.1:n.*25+127G>T
XM_006714177.2:c.*39+127G>T XP_006714240.1:n.*39+127G>T
XM_006714177.3:c.*39+127G>T XP_006714240.1:n.*39+127G>T
NM_000583.4:c.*25+127G>T MANE Select NP_000574.2:n.*25+127G>T