Canonical Allele Identifier: CA341392402
Gene: GPR88 HGNC NCBI

Linked Data

gnomAD v4: 1-100539714-G-A
MyVariant Identifiers: chr1:g.101005270G>A (hg19) chr1:g.100539714G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100539714G>A , CM000663.2:g.100539714G>A GRCh38
NC_000001.10:g.101005270G>A , CM000663.1:g.101005270G>A GRCh37
NC_000001.9:g.100777858G>A NCBI36
NG_053134.1:g.6543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315033.5:c.748G>A MANE Select ENSP00000314223.4:p.Ala250Thr
ENST00000315033.4:c.748G>A ENSP00000314223.4:p.Ala250Thr
NM_022049.2:c.748G>A NP_071332.2:p.Ala250Thr
NM_022049.3:c.748G>A MANE Select NP_071332.2:p.Ala250Thr
Search 100 bp 5'
Search 100 bp 3'