Canonical Allele Identifier: CA971159
Gene: GPR88 HGNC NCBI

Linked Data

ClinVar Variation Id: 1900943
ClinVar RCV Id: RCV002576558
dbSNP Id: rs539290051
ExAC: 1:101005572 C / G
gnomAD v2: 1-101005572-C-G
gnomAD v3: 1-100540016-C-G
gnomAD v4: 1-100540016-C-G
MyVariant Identifiers: chr1:g.101005572C>G (hg19) chr1:g.100540016C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100540016C>G , CM000663.2:g.100540016C>G GRCh38
NC_000001.10:g.101005572C>G , CM000663.1:g.101005572C>G GRCh37
NC_000001.9:g.100778160C>G NCBI36
NG_053134.1:g.6845C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000315033.5:c.1050C>G MANE Select ENSP00000314223.4:p.Val350=
ENST00000315033.4:c.1050C>G ENSP00000314223.4:p.Val350=
NM_022049.2:c.1050C>G NP_071332.2:p.Val350=
NM_022049.3:c.1050C>G MANE Select NP_071332.2:p.Val350=
Search 100 bp 5'
Search 100 bp 3'