Canonical Allele Identifier: CA971111
Gene: GPR88 HGNC NCBI

Linked Data

ClinVar Variation Id: 2856222
ClinVar RCV Id: RCV003696329
dbSNP Id: rs781288655
ExAC: 1:101005179 G / C
gnomAD v2: 1-101005179-G-C
gnomAD v4: 1-100539623-G-C
MyVariant Identifiers: chr1:g.101005179G>C (hg19) chr1:g.100539623G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100539623G>C , CM000663.2:g.100539623G>C GRCh38
NC_000001.10:g.101005179G>C , CM000663.1:g.101005179G>C GRCh37
NC_000001.9:g.100777767G>C NCBI36
NG_053134.1:g.6452G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000315033.5:c.657G>C MANE Select ENSP00000314223.4:p.Val219=
ENST00000315033.4:c.657G>C ENSP00000314223.4:p.Val219=
NM_022049.2:c.657G>C NP_071332.2:p.Val219=
NM_022049.3:c.657G>C MANE Select NP_071332.2:p.Val219=
Search 100 bp 5'
Search 100 bp 3'