Canonical Allele Identifier: CA361837539

Gene: GLRA1

Linked Data

• COSMIC: COSM332459
• MyVariant Identifiers: chr5:g.151231015A>T (hg19) ; chr5:g.151851454A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851454A>T , CM000667.2:g.151851454A>T	GRCh38
NC_000005.9:g.151231015A>T , CM000667.1:g.151231015A>T	GRCh37
NC_000005.8:g.151211208A>T	NCBI36
NG_011764.1:g.78383T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.848T>A MANE Select	ENSP00000274576.5:p.Leu283Gln
ENST00000274576.8:c.848T>A	ENSP00000274576.4:p.Leu283Gln
ENST00000455880.2:c.848T>A	ENSP00000411593.2:p.Leu283Gln
ENST00000462581.6:c.*606T>A	ENSP00000430595.1:n.*606T>A
ENST00000471351.2:n.1131T>A
NM_000171.3:c.848T>A	NP_000162.2:p.Leu283Gln
NM_001146040.1:c.848T>A	NP_001139512.1:p.Leu283Gln
NM_001292000.1:c.599T>A	NP_001278929.1:p.Leu200Gln
XM_005268412.2:c.848T>A	XP_005268469.1:p.Leu283Gln
NM_000171.4:c.848T>A MANE Select	NP_000162.2:p.Leu283Gln
NM_001146040.2:c.848T>A	NP_001139512.1:p.Leu283Gln
NM_001292000.2:c.599T>A	NP_001278929.1:p.Leu200Gln