Canonical Allele Identifier: CA971122
Gene: GPR88 HGNC NCBI

Linked Data

dbSNP Id: rs748465312
ExAC: 1:101005265 C / T
gnomAD v2: 1-101005265-C-T
gnomAD v4: 1-100539709-C-T
MyVariant Identifiers: chr1:g.101005265C>T (hg19) chr1:g.100539709C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100539709C>T , CM000663.2:g.100539709C>T GRCh38
NC_000001.10:g.101005265C>T , CM000663.1:g.101005265C>T GRCh37
NC_000001.9:g.100777853C>T NCBI36
NG_053134.1:g.6538C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000315033.5:c.743C>T MANE Select ENSP00000314223.4:p.Pro248Leu
ENST00000315033.4:c.743C>T ENSP00000314223.4:p.Pro248Leu
NM_022049.2:c.743C>T NP_071332.2:p.Pro248Leu
NM_022049.3:c.743C>T MANE Select NP_071332.2:p.Pro248Leu
Search 100 bp 5'
Search 100 bp 3'