Canonical Allele Identifier: CA245079

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 197118
• ClinVar RCV Id: RCV000487602 ; RCV000989735 ; RCV001083929 ; RCV001001148
• dbSNP Id: rs138836357
• ExAC: 17:7909747 C / T
• gnomAD v2: 17-7909747-C-T
• gnomAD v3: 17-8006429-C-T
• gnomAD v4: 17-8006429-C-T
• MyVariant Identifiers: chr17:g.7909747C>T (hg19) ; chr17:g.8006429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8006429C>T , CM000679.2:g.8006429C>T	GRCh38
NC_000017.10:g.7909747C>T , CM000679.1:g.7909747C>T	GRCh37
NC_000017.9:g.7850472C>T	NCBI36
NG_009092.1:g.8760C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1093C>T MANE Select	ENSP00000254854.4:p.Arg365Trp
ENST00000254854.4:c.1093C>T	ENSP00000254854.4:p.Arg365Trp
NM_000180.3:c.1093C>T	NP_000171.1:p.Arg365Trp
XM_011523816.1:c.1093C>T	XP_011522118.1:p.Arg365Trp
NM_000180.4:c.1093C>T MANE Select	NP_000171.1:p.Arg365Trp