Canonical Allele Identifier: CA497953486
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2022194
ClinVar RCV Id: RCV002847589
MyVariant Identifiers: chr17:g.7915923G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012605G>A , CM000679.2:g.8012605G>A GRCh38
NC_000017.10:g.7915923G>A , CM000679.1:g.7915923G>A GRCh37
NC_000017.9:g.7856648G>A NCBI36
NG_009092.1:g.14936G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2112G>A MANE Select ENSP00000254854.4:p.Glu704=
ENST00000254854.4:c.2112G>A ENSP00000254854.4:p.Glu704=
NM_000180.3:c.2112G>A NP_000171.1:p.Glu704=
XM_011523816.1:c.2112G>A XP_011522118.1:p.Glu704=
NM_000180.4:c.2112G>A MANE Select NP_000171.1:p.Glu704=
Search 100 bp 5'
Search 100 bp 3'