Canonical Allele Identifier: CA99065854
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs371451935

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71756835dup , CM000666.2:g.71756835dup GRCh38
NC_000004.11:g.72622552dup , CM000666.1:g.72622552dup GRCh37
NC_000004.10:g.72841416dup NCBI36
NG_012837.2:g.53686dup
NG_012837.3:g.53686dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.911dup MANE Select ENSP00000273951.8:p.Ala305SerfsTer?
ENST00000273951.12:c.911dup ENSP00000273951.8:p.Ala305SerfsTer?
ENST00000503472.5:n.795dup
ENST00000504199.5:c.968dup ENSP00000421725.1:p.Ala324SerfsTer?
ENST00000509740.5:c.911dup ENSP00000422664.1:p.Ala305SerfsTer?
ENST00000513476.5:c.911dup ENSP00000426683.1:p.Ala305SerfsTer?
NM_000583.3:c.911dup NP_000574.2:p.Ala305SerfsTer?
NM_001204306.1:c.911dup NP_001191235.1:p.Ala305SerfsTer?
NM_001204307.1:c.968dup NP_001191236.1:p.Ala324SerfsTer?
XM_006714177.2:c.911dup XP_006714240.1:p.Ala305SerfsTer?
XM_006714177.3:c.911dup XP_006714240.1:p.Ala305SerfsTer?
NM_000583.4:c.911dup MANE Select NP_000574.2:p.Ala305SerfsTer?