Canonical Allele Identifier: CA357204943
Gene: GC HGNC NCBI

Linked Data

gnomAD v4: 4-71756854-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71756854C>T , CM000666.2:g.71756854C>T GRCh38
NC_000004.11:g.72622571C>T , CM000666.1:g.72622571C>T GRCh37
NC_000004.10:g.72841435C>T NCBI36
NG_012837.2:g.53667G>A
NG_012837.3:g.53667G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.892G>A MANE Select ENSP00000273951.8:p.Asp298Asn
ENST00000273951.12:c.892G>A ENSP00000273951.8:p.Asp298Asn
ENST00000503472.5:n.776G>A
ENST00000504199.5:c.949G>A ENSP00000421725.1:p.Asp317Asn
ENST00000509740.5:c.892G>A ENSP00000422664.1:p.Asp298Asn
ENST00000513476.5:c.892G>A ENSP00000426683.1:p.Asp298Asn
NM_000583.3:c.892G>A NP_000574.2:p.Asp298Asn
NM_001204306.1:c.892G>A NP_001191235.1:p.Asp298Asn
NM_001204307.1:c.949G>A NP_001191236.1:p.Asp317Asn
XM_006714177.2:c.892G>A XP_006714240.1:p.Asp298Asn
XM_006714177.3:c.892G>A XP_006714240.1:p.Asp298Asn
NM_000583.4:c.892G>A MANE Select NP_000574.2:p.Asp298Asn