Canonical Allele Identifier: CA497953074
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1343075012
gnomAD v2: 17-7906987-C-A
gnomAD v4: 17-8003669-C-A
MyVariant Identifiers: chr17:g.7906987C>A (hg19) chr17:g.8003669C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003669C>A , CM000679.2:g.8003669C>A GRCh38
NC_000017.10:g.7906987C>A , CM000679.1:g.7906987C>A GRCh37
NC_000017.9:g.7847712C>A NCBI36
NG_009092.1:g.6000C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.622C>A MANE Select ENSP00000254854.4:p.Arg208=
ENST00000254854.4:c.622C>A ENSP00000254854.4:p.Arg208=
NM_000180.3:c.622C>A NP_000171.1:p.Arg208=
XM_011523816.1:c.622C>A XP_011522118.1:p.Arg208=
NM_000180.4:c.622C>A MANE Select NP_000171.1:p.Arg208=
Search 100 bp 5'
Search 100 bp 3'