Canonical Allele Identifier: CA8365931
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2194734
ClinVar RCV Id: RCV002637296
dbSNP Id: rs567708710
gnomAD v2: 17-7915606-G-A
gnomAD v3: 17-8012288-G-A
gnomAD v4: 17-8012288-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012288G>A , CM000679.2:g.8012288G>A GRCh38
NC_000017.10:g.7915606G>A , CM000679.1:g.7915606G>A GRCh37
NC_000017.9:g.7856331G>A NCBI36
NG_009092.1:g.14619G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1894G>A MANE Select ENSP00000254854.4:p.Ala632Thr
ENST00000254854.4:c.1894G>A ENSP00000254854.4:p.Ala632Thr
NM_000180.3:c.1894G>A NP_000171.1:p.Ala632Thr
XM_011523816.1:c.1894G>A XP_011522118.1:p.Ala632Thr
NM_000180.4:c.1894G>A MANE Select NP_000171.1:p.Ala632Thr