Canonical Allele Identifier: CA341357
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16060
dbSNP Id: rs121918408

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851406C>A , CM000667.2:g.151851406C>A GRCh38
NC_000005.9:g.151230967C>A , CM000667.1:g.151230967C>A GRCh37
NC_000005.8:g.151211160C>A NCBI36
NG_011764.1:g.78431G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.896G>T MANE Select ENSP00000274576.5:p.Arg299Leu
ENST00000274576.8:c.896G>T ENSP00000274576.4:p.Arg299Leu
ENST00000455880.2:c.896G>T ENSP00000411593.2:p.Arg299Leu
ENST00000462581.6:c.*654G>T ENSP00000430595.1:n.*654G>T
ENST00000471351.2:n.1179G>T
NM_000171.3:c.896G>T NP_000162.2:p.Arg299Leu
NM_001146040.1:c.896G>T NP_001139512.1:p.Arg299Leu
NM_001292000.1:c.647G>T NP_001278929.1:p.Arg216Leu
XM_005268412.2:c.896G>T XP_005268469.1:p.Arg299Leu
NM_000171.4:c.896G>T MANE Select NP_000162.2:p.Arg299Leu
NM_001146040.2:c.896G>T NP_001139512.1:p.Arg299Leu
NM_001292000.2:c.647G>T NP_001278929.1:p.Arg216Leu