Canonical Allele Identifier: CA397951227

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 1979034
• ClinVar RCV Id: RCV002766043 ; RCV002766042
• dbSNP Id: rs1975862719
• gnomAD v3: 17-8012164-G-T
• gnomAD v4: 17-8012164-G-T
• MyVariant Identifiers: chr17:g.7915482G>T (hg19) ; chr17:g.8012164G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8012164G>T , CM000679.2:g.8012164G>T	GRCh38
NC_000017.10:g.7915482G>T , CM000679.1:g.7915482G>T	GRCh37
NC_000017.9:g.7856207G>T	NCBI36
NG_009092.1:g.14495G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1770G>T MANE Select	ENSP00000254854.4:p.Glu590Asp
ENST00000254854.4:c.1770G>T	ENSP00000254854.4:p.Glu590Asp
NM_000180.3:c.1770G>T	NP_000171.1:p.Glu590Asp
XM_011523816.1:c.1770G>T	XP_011522118.1:p.Glu590Asp
NM_000180.4:c.1770G>T MANE Select	NP_000171.1:p.Glu590Asp