Canonical Allele Identifier: CA8365991
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 958290
ClinVar RCV Id: RCV001231431
dbSNP Id: rs577880164
gnomAD v2: 17-7915919-C-T
gnomAD v3: 17-8012601-C-T
gnomAD v4: 17-8012601-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012601C>T , CM000679.2:g.8012601C>T GRCh38
NC_000017.10:g.7915919C>T , CM000679.1:g.7915919C>T GRCh37
NC_000017.9:g.7856644C>T NCBI36
NG_009092.1:g.14932C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2108C>T MANE Select ENSP00000254854.4:p.Ala703Val
ENST00000254854.4:c.2108C>T ENSP00000254854.4:p.Ala703Val
NM_000180.3:c.2108C>T NP_000171.1:p.Ala703Val
XM_011523816.1:c.2108C>T XP_011522118.1:p.Ala703Val
NM_000180.4:c.2108C>T MANE Select NP_000171.1:p.Ala703Val