Canonical Allele Identifier: CA287533596
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs963735402
gnomAD v3: 17-8015331-G-A
gnomAD v4: 17-8015331-G-A
COSMIC: COSM221829

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015331G>A , CM000679.2:g.8015331G>A GRCh38
NC_000017.10:g.7918649G>A , CM000679.1:g.7918649G>A GRCh37
NC_000017.9:g.7859374G>A NCBI36
NG_009092.1:g.17662G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2773G>A MANE Select ENSP00000254854.4:p.Glu925Lys
ENST00000254854.4:c.2773G>A ENSP00000254854.4:p.Glu925Lys
NM_000180.3:c.2773G>A NP_000171.1:p.Glu925Lys
XM_011523816.1:c.2773G>A XP_011522118.1:p.Glu925Lys
NM_000180.4:c.2773G>A MANE Select NP_000171.1:p.Glu925Lys