Canonical Allele Identifier: CA226086

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 9357
• ClinVar RCV Id: RCV000009951 ; RCV000084863 ; RCV001003043 ; RCV000787614 ; RCV001271114 ; RCV001228516 ; RCV000504851 ; RCV003324497 ; RCV001723556
• dbSNP Id: rs61750173
• gnomAD v4: 17-8014701-G-A
• COSMIC: COSM1387554
• MyVariant Identifiers: chr17:g.7918019G>A (hg19) ; chr17:g.8014701G>A (hg38)
• PubMed: PMID:10676808 ; PMID:11565546 ; PMID:12552567 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8014701G>A , CM000679.2:g.8014701G>A	GRCh38
NC_000017.10:g.7918019G>A , CM000679.1:g.7918019G>A	GRCh37
NC_000017.9:g.7858744G>A	NCBI36
NG_009092.1:g.17032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2513G>A MANE Select	ENSP00000254854.4:p.Arg838His
ENST00000254854.4:c.2513G>A	ENSP00000254854.4:p.Arg838His
NM_000180.3:c.2513G>A	NP_000171.1:p.Arg838His
XM_011523816.1:c.2513G>A	XP_011522118.1:p.Arg838His
NM_000180.4:c.2513G>A MANE Select	NP_000171.1:p.Arg838His