Canonical Allele Identifier: CA397942828
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1719460
ClinVar RCV Id: RCV002303739
gnomAD v4: 17-8003187-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003187C>G , CM000679.2:g.8003187C>G GRCh38
NC_000017.10:g.7906505C>G , CM000679.1:g.7906505C>G GRCh37
NC_000017.9:g.7847230C>G NCBI36
NG_009092.1:g.5518C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.140C>G MANE Select ENSP00000254854.4:p.Pro47Arg
ENST00000254854.4:c.140C>G ENSP00000254854.4:p.Pro47Arg
NM_000180.3:c.140C>G NP_000171.1:p.Pro47Arg
XM_011523816.1:c.140C>G XP_011522118.1:p.Pro47Arg
NM_000180.4:c.140C>G MANE Select NP_000171.1:p.Pro47Arg