Canonical Allele Identifier: CA341392427

Gene: GPR88

Linked Data

• dbSNP Id: rs1307615228
• gnomAD v2: 1-101005280-C-T
• gnomAD v4: 1-100539724-C-T
• MyVariant Identifiers: chr1:g.101005280C>T (hg19) ; chr1:g.100539724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100539724C>T , CM000663.2:g.100539724C>T	GRCh38
NC_000001.10:g.101005280C>T , CM000663.1:g.101005280C>T	GRCh37
NC_000001.9:g.100777868C>T	NCBI36
NG_053134.1:g.6553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315033.5:c.758C>T MANE Select	ENSP00000314223.4:p.Ala253Val
ENST00000315033.4:c.758C>T	ENSP00000314223.4:p.Ala253Val
NM_022049.2:c.758C>T	NP_071332.2:p.Ala253Val
NM_022049.3:c.758C>T MANE Select	NP_071332.2:p.Ala253Val