Canonical Allele Identifier: CA397951274
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2944309
ClinVar RCV Id: RCV003806059
MyVariant Identifiers: chr17:g.7915493T>A (hg19) chr17:g.8012175T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012175T>A , CM000679.2:g.8012175T>A GRCh38
NC_000017.10:g.7915493T>A , CM000679.1:g.7915493T>A GRCh37
NC_000017.9:g.7856218T>A NCBI36
NG_009092.1:g.14506T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.1781T>A MANE Select ENSP00000254854.4:p.Leu594His
ENST00000254854.4:c.1781T>A ENSP00000254854.4:p.Leu594His
NM_000180.3:c.1781T>A NP_000171.1:p.Leu594His
XM_011523816.1:c.1781T>A XP_011522118.1:p.Leu594His
NM_000180.4:c.1781T>A MANE Select NP_000171.1:p.Leu594His
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