Canonical Allele Identifier: CA130010050
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2305859
ClinVar RCV Id: RCV002874787
dbSNP Id: rs1049545628

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151828947A>G , CM000667.2:g.151828947A>G GRCh38
NC_000005.9:g.151208508A>G , CM000667.1:g.151208508A>G GRCh37
NC_000005.8:g.151188701A>G NCBI36
NG_011764.1:g.100890T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1033T>C MANE Select ENSP00000274576.5:p.Phe345Leu
ENST00000274576.8:c.1033T>C ENSP00000274576.4:p.Phe345Leu
ENST00000455880.2:c.1033T>C ENSP00000411593.2:p.Phe345Leu
ENST00000462581.6:c.*791T>C ENSP00000430595.1:n.*791T>C
NM_000171.3:c.1033T>C NP_000162.2:p.Phe345Leu
NM_001146040.1:c.1033T>C NP_001139512.1:p.Phe345Leu
NM_001292000.1:c.784T>C NP_001278929.1:p.Phe262Leu
NM_000171.4:c.1033T>C MANE Select NP_000162.2:p.Phe345Leu
NM_001146040.2:c.1033T>C NP_001139512.1:p.Phe345Leu
NM_001292000.2:c.784T>C NP_001278929.1:p.Phe262Leu