Canonical Allele Identifier: CA341369
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16066
ClinVar RCV Id: RCV000017444
dbSNP Id: rs121918413

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851470G>T , CM000667.2:g.151851470G>T GRCh38
NC_000005.9:g.151231031G>T , CM000667.1:g.151231031G>T GRCh37
NC_000005.8:g.151211224G>T NCBI36
NG_011764.1:g.78367C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274576.9:c.832C>A MANE Select ENSP00000274576.5:p.Pro278Thr
ENST00000274576.8:c.832C>A ENSP00000274576.4:p.Pro278Thr
ENST00000455880.2:c.832C>A ENSP00000411593.2:p.Pro278Thr
ENST00000462581.6:c.*590C>A ENSP00000430595.1:n.*590C>A
ENST00000471351.2:n.1115C>A
NM_000171.3:c.832C>A NP_000162.2:p.Pro278Thr
NM_001146040.1:c.832C>A NP_001139512.1:p.Pro278Thr
NM_001292000.1:c.583C>A NP_001278929.1:p.Pro195Thr
XM_005268412.2:c.832C>A XP_005268469.1:p.Pro278Thr
NM_000171.4:c.832C>A MANE Select NP_000162.2:p.Pro278Thr
NM_001146040.2:c.832C>A NP_001139512.1:p.Pro278Thr
NM_001292000.2:c.583C>A NP_001278929.1:p.Pro195Thr