Canonical Allele Identifier: CA287531283
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2938451
ClinVar RCV Id: RCV003799225
dbSNP Id: rs754134176

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012560A>G , CM000679.2:g.8012560A>G GRCh38
NC_000017.10:g.7915878A>G , CM000679.1:g.7915878A>G GRCh37
NC_000017.9:g.7856603A>G NCBI36
NG_009092.1:g.14891A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2067A>G MANE Select ENSP00000254854.4:p.Arg689=
ENST00000254854.4:c.2067A>G ENSP00000254854.4:p.Arg689=
NM_000180.3:c.2067A>G NP_000171.1:p.Arg689=
XM_011523816.1:c.2067A>G XP_011522118.1:p.Arg689=
NM_000180.4:c.2067A>G MANE Select NP_000171.1:p.Arg689=