Canonical Allele Identifier: CA99059567
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs222043
gnomAD v2: 4-72611699-G-A
gnomAD v3: 4-71745982-G-A
gnomAD v4: 4-71745982-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71745982G>A , CM000666.2:g.71745982G>A GRCh38
NC_000004.11:g.72611699G>A , CM000666.1:g.72611699G>A GRCh37
NC_000004.10:g.72830563G>A NCBI36
NG_012837.2:g.64539C>T
NG_012837.3:g.64539C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.*25+169C>T MANE Select ENSP00000273951.8:n.*25+169C>T
ENST00000273951.12:c.*25+169C>T ENSP00000273951.8:n.*25+169C>T
ENST00000503364.5:n.123+169C>T
ENST00000503472.5:n.1334+169C>T
ENST00000504199.5:c.*25+169C>T ENSP00000421725.1:n.*25+169C>T
ENST00000509740.5:c.*273+169C>T ENSP00000422664.1:n.*273+169C>T
ENST00000513476.5:c.1396-4112C>T ENSP00000426683.1:n.1396-4112C>T
NM_000583.3:c.*25+169C>T NP_000574.2:n.*25+169C>T
NM_001204306.1:c.*25+169C>T NP_001191235.1:n.*25+169C>T
NM_001204307.1:c.*25+169C>T NP_001191236.1:n.*25+169C>T
XM_006714177.2:c.*39+169C>T XP_006714240.1:n.*39+169C>T
XM_006714177.3:c.*39+169C>T XP_006714240.1:n.*39+169C>T
NM_000583.4:c.*25+169C>T MANE Select NP_000574.2:n.*25+169C>T