Canonical Allele Identifier: CA287530596
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs182237936
gnomAD v2: 17-7915233-G-A
gnomAD v3: 17-8011915-G-A
gnomAD v4: 17-8011915-G-A
MyVariant Identifiers: chr17:g.7915233G>A (hg19) chr17:g.8011915G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8011915G>A , CM000679.2:g.8011915G>A GRCh38
NC_000017.10:g.7915233G>A , CM000679.1:g.7915233G>A GRCh37
NC_000017.9:g.7855958G>A NCBI36
NG_009092.1:g.14246G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1750-229G>A MANE Select ENSP00000254854.4:n.1750-229G>A
ENST00000254854.4:c.1750-229G>A ENSP00000254854.4:n.1750-229G>A
NM_000180.3:c.1750-229G>A NP_000171.1:n.1750-229G>A
XM_011523816.1:c.1750-229G>A XP_011522118.1:n.1750-229G>A
NM_000180.4:c.1750-229G>A MANE Select NP_000171.1:n.1750-229G>A
Search 100 bp 5'
Search 100 bp 3'