Canonical Allele Identifier: CA226122

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 98590
• ClinVar RCV Id: RCV000084885 ; RCV000505073 ; RCV001053255 ; RCV001250822
• dbSNP Id: rs61749668
• gnomAD v2: 17-7906672-G-A
• gnomAD v3: 17-8003354-G-A
• gnomAD v4: 17-8003354-G-A
• MyVariant Identifiers: chr17:g.7906672G>A (hg19) ; chr17:g.8003354G>A (hg38)
• PubMed: PMID:18055820 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8003354G>A , CM000679.2:g.8003354G>A	GRCh38
NC_000017.10:g.7906672G>A , CM000679.1:g.7906672G>A	GRCh37
NC_000017.9:g.7847397G>A	NCBI36
NG_009092.1:g.5685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.307G>A MANE Select	ENSP00000254854.4:p.Glu103Lys
ENST00000254854.4:c.307G>A	ENSP00000254854.4:p.Glu103Lys
NM_000180.3:c.307G>A	NP_000171.1:p.Glu103Lys
XM_011523816.1:c.307G>A	XP_011522118.1:p.Glu103Lys
NM_000180.4:c.307G>A MANE Select	NP_000171.1:p.Glu103Lys