Canonical Allele Identifier: CA397949463

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 521652
• ClinVar RCV Id: RCV000622935 ; RCV002531901 ; RCV003156266
• dbSNP Id: rs1348467293
• gnomAD v2: 17-7910847-G-A
• gnomAD v3: 17-8007529-G-A
• gnomAD v4: 17-8007529-G-A
• MyVariant Identifiers: chr17:g.7910847G>A (hg19) ; chr17:g.8007529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8007529G>A , CM000679.2:g.8007529G>A	GRCh38
NC_000017.10:g.7910847G>A , CM000679.1:g.7910847G>A	GRCh37
NC_000017.9:g.7851572G>A	NCBI36
NG_009092.1:g.9860G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1566+1G>A MANE Select	ENSP00000254854.4:n.1566+1G>A
ENST00000254854.4:c.1566+1G>A	ENSP00000254854.4:n.1566+1G>A
NM_000180.3:c.1566+1G>A	NP_000171.1:n.1566+1G>A
XM_011523816.1:c.1566+1G>A	XP_011522118.1:n.1566+1G>A
NM_000180.4:c.1566+1G>A MANE Select	NP_000171.1:n.1566+1G>A