Canonical Allele Identifier: CA397953824

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 497765
• ClinVar RCV Id: RCV000593037 ; RCV000700865 ; RCV000989742
• dbSNP Id: rs1555635778
• gnomAD v3: 17-8014751-C-T
• gnomAD v4: 17-8014751-C-T
• MyVariant Identifiers: chr17:g.7918069C>T (hg19) ; chr17:g.8014751C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8014751C>T , CM000679.2:g.8014751C>T	GRCh38
NC_000017.10:g.7918069C>T , CM000679.1:g.7918069C>T	GRCh37
NC_000017.9:g.7858794C>T	NCBI36
NG_009092.1:g.17082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2563C>T MANE Select	ENSP00000254854.4:p.Gln855Ter
ENST00000254854.4:c.2563C>T	ENSP00000254854.4:p.Gln855Ter
NM_000180.3:c.2563C>T	NP_000171.1:p.Gln855Ter
XM_011523816.1:c.2563C>T	XP_011522118.1:p.Gln855Ter
NM_000180.4:c.2563C>T MANE Select	NP_000171.1:p.Gln855Ter