Canonical Allele Identifier: CA342956
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 38330
ClinVar RCV Id: RCV000031888
dbSNP Id: rs281864917

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851501C>G , CM000667.2:g.151851501C>G GRCh38
NC_000005.9:g.151231062C>G , CM000667.1:g.151231062C>G GRCh37
NC_000005.8:g.151211255C>G NCBI36
NG_011764.1:g.78336G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.801G>C MANE Select ENSP00000274576.5:p.Trp267Cys
ENST00000274576.8:c.801G>C ENSP00000274576.4:p.Trp267Cys
ENST00000455880.2:c.801G>C ENSP00000411593.2:p.Trp267Cys
ENST00000462581.6:c.*559G>C ENSP00000430595.1:n.*559G>C
ENST00000471351.2:n.1084G>C
NM_000171.3:c.801G>C NP_000162.2:p.Trp267Cys
NM_001146040.1:c.801G>C NP_001139512.1:p.Trp267Cys
NM_001292000.1:c.552G>C NP_001278929.1:p.Trp184Cys
XM_005268412.2:c.801G>C XP_005268469.1:p.Trp267Cys
NM_000171.4:c.801G>C MANE Select NP_000162.2:p.Trp267Cys
NM_001146040.2:c.801G>C NP_001139512.1:p.Trp267Cys
NM_001292000.2:c.552G>C NP_001278929.1:p.Trp184Cys