Canonical Allele Identifier: CA16618145

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 422464
• ClinVar RCV Id: RCV000486352
• dbSNP Id: rs1064795797
• MyVariant Identifiers: chr5:g.151208594G>T (hg19) ; chr5:g.151829033G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151829033G>T , CM000667.2:g.151829033G>T	GRCh38
NC_000005.9:g.151208594G>T , CM000667.1:g.151208594G>T	GRCh37
NC_000005.8:g.151188787G>T	NCBI36
NG_011764.1:g.100804C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.947C>A MANE Select	ENSP00000274576.5:p.Ala316Glu
ENST00000274576.8:c.947C>A	ENSP00000274576.4:p.Ala316Glu
ENST00000455880.2:c.947C>A	ENSP00000411593.2:p.Ala316Glu
ENST00000462581.6:c.*705C>A	ENSP00000430595.1:n.*705C>A
NM_000171.3:c.947C>A	NP_000162.2:p.Ala316Glu
NM_001146040.1:c.947C>A	NP_001139512.1:p.Ala316Glu
NM_001292000.1:c.698C>A	NP_001278929.1:p.Ala233Glu
NM_000171.4:c.947C>A MANE Select	NP_000162.2:p.Ala316Glu
NM_001146040.2:c.947C>A	NP_001139512.1:p.Ala316Glu
NM_001292000.2:c.698C>A	NP_001278929.1:p.Ala233Glu