Canonical Allele Identifier: CA8366280
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs765914203
gnomAD v2: 17-7919139-G-A
gnomAD v4: 17-8015821-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015821G>A , CM000679.2:g.8015821G>A GRCh38
NC_000017.10:g.7919139G>A , CM000679.1:g.7919139G>A GRCh37
NC_000017.9:g.7859864G>A NCBI36
NG_009092.1:g.18152G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3023G>A MANE Select ENSP00000254854.4:p.Arg1008His
ENST00000254854.4:c.3023G>A ENSP00000254854.4:p.Arg1008His
NM_000180.3:c.3023G>A NP_000171.1:p.Arg1008His
XM_011523816.1:c.3023G>A XP_011522118.1:p.Arg1008His
NM_000180.4:c.3023G>A MANE Select NP_000171.1:p.Arg1008His