Canonical Allele Identifier: CA497753807
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2923451
ClinVar RCV Id: RCV003780569
dbSNP Id: rs1290360925
gnomAD v4: 17-8015744-T-A
MyVariant Identifiers: chr17:g.7919062T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015744T>A , CM000679.2:g.8015744T>A GRCh38
NC_000017.10:g.7919062T>A , CM000679.1:g.7919062T>A GRCh37
NC_000017.9:g.7859787T>A NCBI36
NG_009092.1:g.18075T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2946T>A MANE Select ENSP00000254854.4:p.Gly982=
ENST00000254854.4:c.2946T>A ENSP00000254854.4:p.Gly982=
NM_000180.3:c.2946T>A NP_000171.1:p.Gly982=
XM_011523816.1:c.2946T>A XP_011522118.1:p.Gly982=
NM_000180.4:c.2946T>A MANE Select NP_000171.1:p.Gly982=
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Search 100 bp 3'