Canonical Allele Identifier: CA361849861

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 1486436
• ClinVar RCV Id: RCV002003590
• dbSNP Id: rs2113276596
• MyVariant Identifiers: chr5:g.151202347T>C (hg19) ; chr5:g.151822786T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822786T>C , CM000667.2:g.151822786T>C	GRCh38
NC_000005.9:g.151202347T>C , CM000667.1:g.151202347T>C	GRCh37
NC_000005.8:g.151182540T>C	NCBI36
NG_011764.1:g.107051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1237A>G MANE Select	ENSP00000274576.5:p.Lys413Glu
ENST00000274576.8:c.1237A>G	ENSP00000274576.4:p.Lys413Glu
ENST00000455880.2:c.1261A>G	ENSP00000411593.2:p.Lys421Glu
ENST00000462581.6:c.*995A>G	ENSP00000430595.1:n.*995A>G
NM_000171.3:c.1237A>G	NP_000162.2:p.Lys413Glu
NM_001146040.1:c.1261A>G	NP_001139512.1:p.Lys421Glu
NM_001292000.1:c.988A>G	NP_001278929.1:p.Lys330Glu
NM_000171.4:c.1237A>G MANE Select	NP_000162.2:p.Lys413Glu
NM_001146040.2:c.1261A>G	NP_001139512.1:p.Lys421Glu
NM_001292000.2:c.988A>G	NP_001278929.1:p.Lys330Glu