Canonical Allele Identifier: CA397955055
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 915393
ClinVar RCV Id: RCV001170003
dbSNP Id: rs1975955933
MyVariant Identifiers: chr17:g.7919059A>C (hg19) chr17:g.8015741A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015741A>C , CM000679.2:g.8015741A>C GRCh38
NC_000017.10:g.7919059A>C , CM000679.1:g.7919059A>C GRCh37
NC_000017.9:g.7859784A>C NCBI36
NG_009092.1:g.18072A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2945-2A>C MANE Select ENSP00000254854.4:n.2945-2A>C
ENST00000254854.4:c.2945-2A>C ENSP00000254854.4:n.2945-2A>C
NM_000180.3:c.2945-2A>C NP_000171.1:n.2945-2A>C
XM_011523816.1:c.2945-2A>C XP_011522118.1:n.2945-2A>C
NM_000180.4:c.2945-2A>C MANE Select NP_000171.1:n.2945-2A>C
Search 100 bp 5'
Search 100 bp 3'