Canonical Allele Identifier: CA341392809
Gene: GPR88 HGNC NCBI

Linked Data

gnomAD v4: 1-100539915-G-T
MyVariant Identifiers: chr1:g.101005471G>T (hg19) chr1:g.100539915G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100539915G>T , CM000663.2:g.100539915G>T GRCh38
NC_000001.10:g.101005471G>T , CM000663.1:g.101005471G>T GRCh37
NC_000001.9:g.100778059G>T NCBI36
NG_053134.1:g.6744G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000315033.5:c.949G>T MANE Select ENSP00000314223.4:p.Val317Leu
ENST00000315033.4:c.949G>T ENSP00000314223.4:p.Val317Leu
NM_022049.2:c.949G>T NP_071332.2:p.Val317Leu
NM_022049.3:c.949G>T MANE Select NP_071332.2:p.Val317Leu
Search 100 bp 5'
Search 100 bp 3'