Canonical Allele Identifier: CA356539
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242679
ClinVar RCV Id: RCV001056831
dbSNP Id: rs281864918

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851463C>T , CM000667.2:g.151851463C>T GRCh38
NC_000005.9:g.151231024C>T , CM000667.1:g.151231024C>T GRCh37
NC_000005.8:g.151211217C>T NCBI36
NG_011764.1:g.78374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.839G>A MANE Select ENSP00000274576.5:p.Arg280His
ENST00000274576.8:c.839G>A ENSP00000274576.4:p.Arg280His
ENST00000455880.2:c.839G>A ENSP00000411593.2:p.Arg280His
ENST00000462581.6:c.*597G>A ENSP00000430595.1:n.*597G>A
ENST00000471351.2:n.1122G>A
NM_000171.3:c.839G>A NP_000162.2:p.Arg280His
NM_001146040.1:c.839G>A NP_001139512.1:p.Arg280His
NM_001292000.1:c.590G>A NP_001278929.1:p.Arg197His
XM_005268412.2:c.839G>A XP_005268469.1:p.Arg280His
NM_000171.4:c.839G>A MANE Select NP_000162.2:p.Arg280His
NM_001146040.2:c.839G>A NP_001139512.1:p.Arg280His
NM_001292000.2:c.590G>A NP_001278929.1:p.Arg197His