Canonical Allele Identifier: CA397952026
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2944016
ClinVar RCV Id: RCV003805766
MyVariant Identifiers: chr17:g.7915771A>C (hg19) chr17:g.8012453A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012453A>C , CM000679.2:g.8012453A>C GRCh38
NC_000017.10:g.7915771A>C , CM000679.1:g.7915771A>C GRCh37
NC_000017.9:g.7856496A>C NCBI36
NG_009092.1:g.14784A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1960A>C MANE Select ENSP00000254854.4:p.Ile654Leu
ENST00000254854.4:c.1960A>C ENSP00000254854.4:p.Ile654Leu
NM_000180.3:c.1960A>C NP_000171.1:p.Ile654Leu
XM_011523816.1:c.1960A>C XP_011522118.1:p.Ile654Leu
NM_000180.4:c.1960A>C MANE Select NP_000171.1:p.Ile654Leu
Search 100 bp 5'
Search 100 bp 3'