Canonical Allele Identifier: CA226112

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 98584
• ClinVar RCV Id: RCV000084879 ; RCV001250866
• dbSNP Id: rs61750187
• gnomAD v4: 17-8015781-C-T
• COSMIC: COSM1679541
• MyVariant Identifiers: chr17:g.7919099C>T (hg19) ; chr17:g.8015781C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015781C>T , CM000679.2:g.8015781C>T	GRCh38
NC_000017.10:g.7919099C>T , CM000679.1:g.7919099C>T	GRCh37
NC_000017.9:g.7859824C>T	NCBI36
NG_009092.1:g.18112C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2983C>T MANE Select	ENSP00000254854.4:p.Arg995Trp
ENST00000254854.4:c.2983C>T	ENSP00000254854.4:p.Arg995Trp
NM_000180.3:c.2983C>T	NP_000171.1:p.Arg995Trp
XM_011523816.1:c.2983C>T	XP_011522118.1:p.Arg995Trp
NM_000180.4:c.2983C>T MANE Select	NP_000171.1:p.Arg995Trp