Canonical Allele Identifier: CA341392213

Gene: GPR88

Linked Data

• dbSNP Id: rs1236400482
• gnomAD v2: 1-101005181-G-A
• gnomAD v4: 1-100539625-G-A
• MyVariant Identifiers: chr1:g.101005181G>A (hg19) ; chr1:g.100539625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100539625G>A , CM000663.2:g.100539625G>A	GRCh38
NC_000001.10:g.101005181G>A , CM000663.1:g.101005181G>A	GRCh37
NC_000001.9:g.100777769G>A	NCBI36
NG_053134.1:g.6454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315033.5:c.659G>A MANE Select	ENSP00000314223.4:p.Arg220His
ENST00000315033.4:c.659G>A	ENSP00000314223.4:p.Arg220His
NM_022049.2:c.659G>A	NP_071332.2:p.Arg220His
NM_022049.3:c.659G>A MANE Select	NP_071332.2:p.Arg220His