Canonical Allele Identifier: CA971139
Gene: GPR88 HGNC NCBI

Linked Data

ClinVar Variation Id: 2592113
ClinVar RCV Id: RCV003777512 RCV004341689
dbSNP Id: rs772352894
ExAC: 1:101005471 G / A
gnomAD v2: 1-101005471-G-A
gnomAD v3: 1-100539915-G-A
gnomAD v4: 1-100539915-G-A
MyVariant Identifiers: chr1:g.101005471G>A (hg19) chr1:g.100539915G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100539915G>A , CM000663.2:g.100539915G>A GRCh38
NC_000001.10:g.101005471G>A , CM000663.1:g.101005471G>A GRCh37
NC_000001.9:g.100778059G>A NCBI36
NG_053134.1:g.6744G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315033.5:c.949G>A MANE Select ENSP00000314223.4:p.Val317Met
ENST00000315033.4:c.949G>A ENSP00000314223.4:p.Val317Met
NM_022049.2:c.949G>A NP_071332.2:p.Val317Met
NM_022049.3:c.949G>A MANE Select NP_071332.2:p.Val317Met
Search 100 bp 5'
Search 100 bp 3'