Canonical Allele Identifier: CA8365931

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 2194734
• ClinVar RCV Id: RCV002637296
• dbSNP Id: rs567708710
• ExAC: 17:7915606 G / A
• gnomAD v2: 17-7915606-G-A
• gnomAD v3: 17-8012288-G-A
• gnomAD v4: 17-8012288-G-A
• MyVariant Identifiers: chr17:g.7915606G>A (hg19) ; chr17:g.8012288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8012288G>A , CM000679.2:g.8012288G>A	GRCh38
NC_000017.10:g.7915606G>A , CM000679.1:g.7915606G>A	GRCh37
NC_000017.9:g.7856331G>A	NCBI36
NG_009092.1:g.14619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1894G>A MANE Select	ENSP00000254854.4:p.Ala632Thr
ENST00000254854.4:c.1894G>A	ENSP00000254854.4:p.Ala632Thr
NM_000180.3:c.1894G>A	NP_000171.1:p.Ala632Thr
XM_011523816.1:c.1894G>A	XP_011522118.1:p.Ala632Thr
NM_000180.4:c.1894G>A MANE Select	NP_000171.1:p.Ala632Thr