Canonical Allele Identifier: CA226155

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 98610
• ClinVar RCV Id: RCV000084906 ; RCV001250818 ; RCV003764783
• dbSNP Id: rs61749673
• ExAC: 17:7907383 C / T
• gnomAD v2: 17-7907383-C-T
• gnomAD v3: 17-8004065-C-T
• gnomAD v4: 17-8004065-C-T
• MyVariant Identifiers: chr17:g.7907383C>T (hg19) ; chr17:g.8004065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8004065C>T , CM000679.2:g.8004065C>T	GRCh38
NC_000017.10:g.7907383C>T , CM000679.1:g.7907383C>T	GRCh37
NC_000017.9:g.7848108C>T	NCBI36
NG_009092.1:g.6396C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.935C>T MANE Select	ENSP00000254854.4:p.Thr312Met
ENST00000254854.4:c.935C>T	ENSP00000254854.4:p.Thr312Met
NM_000180.3:c.935C>T	NP_000171.1:p.Thr312Met
XM_011523816.1:c.935C>T	XP_011522118.1:p.Thr312Met
NM_000180.4:c.935C>T MANE Select	NP_000171.1:p.Thr312Met