Canonical Allele Identifier: CA341392390

Gene: GPR88

Linked Data

• gnomAD v4: 1-100539707-C-A
• MyVariant Identifiers: chr1:g.101005263C>A (hg19) ; chr1:g.100539707C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100539707C>A , CM000663.2:g.100539707C>A	GRCh38
NC_000001.10:g.101005263C>A , CM000663.1:g.101005263C>A	GRCh37
NC_000001.9:g.100777851C>A	NCBI36
NG_053134.1:g.6536C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315033.5:c.741C>A MANE Select	ENSP00000314223.4:p.Phe247Leu
ENST00000315033.4:c.741C>A	ENSP00000314223.4:p.Phe247Leu
NM_022049.2:c.741C>A	NP_071332.2:p.Phe247Leu
NM_022049.3:c.741C>A MANE Select	NP_071332.2:p.Phe247Leu