Canonical Allele Identifier: CA341393059

Gene: GPR88

Linked Data

• ClinVar Variation Id: 2544671
• ClinVar RCV Id: RCV004320689
• gnomAD v4: 1-100540035-G-A
• MyVariant Identifiers: chr1:g.101005591G>A (hg19) ; chr1:g.100540035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100540035G>A , CM000663.2:g.100540035G>A	GRCh38
NC_000001.10:g.101005591G>A , CM000663.1:g.101005591G>A	GRCh37
NC_000001.9:g.100778179G>A	NCBI36
NG_053134.1:g.6864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315033.5:c.1069G>A MANE Select	ENSP00000314223.4:p.Ala357Thr
ENST00000315033.4:c.1069G>A	ENSP00000314223.4:p.Ala357Thr
NM_022049.2:c.1069G>A	NP_071332.2:p.Ala357Thr
NM_022049.3:c.1069G>A MANE Select	NP_071332.2:p.Ala357Thr