Canonical Allele Identifier: CA419317610
Gene: GPR88 HGNC NCBI

Linked Data

ClinVar Variation Id: 1346886
ClinVar RCV Id: RCV002032875
dbSNP Id: rs1164094048
gnomAD v2: 1-101005407-G-A
gnomAD v3: 1-100539851-G-A
gnomAD v4: 1-100539851-G-A
MyVariant Identifiers: chr1:g.101005407G>A (hg19) chr1:g.100539851G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100539851G>A , CM000663.2:g.100539851G>A GRCh38
NC_000001.10:g.101005407G>A , CM000663.1:g.101005407G>A GRCh37
NC_000001.9:g.100777995G>A NCBI36
NG_053134.1:g.6680G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315033.5:c.885G>A MANE Select ENSP00000314223.4:p.Leu295=
ENST00000315033.4:c.885G>A ENSP00000314223.4:p.Leu295=
NM_022049.2:c.885G>A NP_071332.2:p.Leu295=
NM_022049.3:c.885G>A MANE Select NP_071332.2:p.Leu295=
Search 100 bp 5'
Search 100 bp 3'