Canonical Allele Identifier: CA341367

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 16065
• ClinVar RCV Id: RCV000017443 ; RCV001268225
• dbSNP Id: rs121918412
• MyVariant Identifiers: chr5:g.151230953T>C (hg19) ; chr5:g.151851392T>C (hg38)
• PubMed: PMID:8733061 ; PMID:9067762 ; PMID:20301437

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851392T>C , CM000667.2:g.151851392T>C	GRCh38
NC_000005.9:g.151230953T>C , CM000667.1:g.151230953T>C	GRCh37
NC_000005.8:g.151211146T>C	NCBI36
NG_011764.1:g.78445A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.910A>G MANE Select	ENSP00000274576.5:p.Lys304Glu
ENST00000274576.8:c.910A>G	ENSP00000274576.4:p.Lys304Glu
ENST00000455880.2:c.910A>G	ENSP00000411593.2:p.Lys304Glu
ENST00000462581.6:c.*668A>G	ENSP00000430595.1:n.*668A>G
ENST00000471351.2:n.1193A>G
NM_000171.3:c.910A>G	NP_000162.2:p.Lys304Glu
NM_001146040.1:c.910A>G	NP_001139512.1:p.Lys304Glu
NM_001292000.1:c.661A>G	NP_001278929.1:p.Lys221Glu
XM_005268412.2:c.910A>G	XP_005268469.1:p.Lys304Glu
NM_000171.4:c.910A>G MANE Select	NP_000162.2:p.Lys304Glu
NM_001146040.2:c.910A>G	NP_001139512.1:p.Lys304Glu
NM_001292000.2:c.661A>G	NP_001278929.1:p.Lys221Glu