Canonical Allele Identifier: CA497753668
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2027689
ClinVar RCV Id: RCV002866744
gnomAD v4: 17-8015417-A-T
MyVariant Identifiers: chr17:g.7918735A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015417A>T , CM000679.2:g.8015417A>T GRCh38
NC_000017.10:g.7918735A>T , CM000679.1:g.7918735A>T GRCh37
NC_000017.9:g.7859460A>T NCBI36
NG_009092.1:g.17748A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.2859A>T MANE Select ENSP00000254854.4:p.Ser953=
ENST00000254854.4:c.2859A>T ENSP00000254854.4:p.Ser953=
NM_000180.3:c.2859A>T NP_000171.1:p.Ser953=
XM_011523816.1:c.2859A>T XP_011522118.1:p.Ser953=
NM_000180.4:c.2859A>T MANE Select NP_000171.1:p.Ser953=
Search 100 bp 5'
Search 100 bp 3'