Canonical Allele Identifier: CA341392435
Gene: GPR88 HGNC NCBI

Linked Data

gnomAD v4: 1-100539727-C-T
MyVariant Identifiers: chr1:g.101005283C>T (hg19) chr1:g.100539727C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100539727C>T , CM000663.2:g.100539727C>T GRCh38
NC_000001.10:g.101005283C>T , CM000663.1:g.101005283C>T GRCh37
NC_000001.9:g.100777871C>T NCBI36
NG_053134.1:g.6556C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000315033.5:c.761C>T MANE Select ENSP00000314223.4:p.Pro254Leu
ENST00000315033.4:c.761C>T ENSP00000314223.4:p.Pro254Leu
NM_022049.2:c.761C>T NP_071332.2:p.Pro254Leu
NM_022049.3:c.761C>T MANE Select NP_071332.2:p.Pro254Leu
Search 100 bp 5'
Search 100 bp 3'