Canonical Allele Identifier: CA8366237
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs756575304
ExAC: 17:7918706 C / A
gnomAD v2: 17-7918706-C-A
gnomAD v4: 17-8015388-C-A
MyVariant Identifiers: chr17:g.7918706C>A (hg19) chr17:g.8015388C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015388C>A , CM000679.2:g.8015388C>A GRCh38
NC_000017.10:g.7918706C>A , CM000679.1:g.7918706C>A GRCh37
NC_000017.9:g.7859431C>A NCBI36
NG_009092.1:g.17719C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2830C>A MANE Select ENSP00000254854.4:p.Arg944=
ENST00000254854.4:c.2830C>A ENSP00000254854.4:p.Arg944=
NM_000180.3:c.2830C>A NP_000171.1:p.Arg944=
XM_011523816.1:c.2830C>A XP_011522118.1:p.Arg944=
NM_000180.4:c.2830C>A MANE Select NP_000171.1:p.Arg944=
Search 100 bp 5'
Search 100 bp 3'