Canonical Allele Identifier: CA3523555
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 657799
ClinVar RCV Id: RCV000814488
dbSNP Id: rs77451630

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151828958T>C , CM000667.2:g.151828958T>C GRCh38
NC_000005.9:g.151208519T>C , CM000667.1:g.151208519T>C GRCh37
NC_000005.8:g.151188712T>C NCBI36
NG_011764.1:g.100879A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1022A>G MANE Select ENSP00000274576.5:p.Glu341Gly
ENST00000274576.8:c.1022A>G ENSP00000274576.4:p.Glu341Gly
ENST00000455880.2:c.1022A>G ENSP00000411593.2:p.Glu341Gly
ENST00000462581.6:c.*780A>G ENSP00000430595.1:n.*780A>G
NM_000171.3:c.1022A>G NP_000162.2:p.Glu341Gly
NM_001146040.1:c.1022A>G NP_001139512.1:p.Glu341Gly
NM_001292000.1:c.773A>G NP_001278929.1:p.Glu258Gly
NM_000171.4:c.1022A>G MANE Select NP_000162.2:p.Glu341Gly
NM_001146040.2:c.1022A>G NP_001139512.1:p.Glu341Gly
NM_001292000.2:c.773A>G NP_001278929.1:p.Glu258Gly