Canonical Allele Identifier: CA361837542

Gene: GLRA1

Linked Data

• MyVariant Identifiers: chr5:g.151231016G>C (hg19) ; chr5:g.151851455G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851455G>C , CM000667.2:g.151851455G>C	GRCh38
NC_000005.9:g.151231016G>C , CM000667.1:g.151231016G>C	GRCh37
NC_000005.8:g.151211209G>C	NCBI36
NG_011764.1:g.78382C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.847C>G MANE Select	ENSP00000274576.5:p.Leu283Val
ENST00000274576.8:c.847C>G	ENSP00000274576.4:p.Leu283Val
ENST00000455880.2:c.847C>G	ENSP00000411593.2:p.Leu283Val
ENST00000462581.6:c.*605C>G	ENSP00000430595.1:n.*605C>G
ENST00000471351.2:n.1130C>G
NM_000171.3:c.847C>G	NP_000162.2:p.Leu283Val
NM_001146040.1:c.847C>G	NP_001139512.1:p.Leu283Val
NM_001292000.1:c.598C>G	NP_001278929.1:p.Leu200Val
XM_005268412.2:c.847C>G	XP_005268469.1:p.Leu283Val
NM_000171.4:c.847C>G MANE Select	NP_000162.2:p.Leu283Val
NM_001146040.2:c.847C>G	NP_001139512.1:p.Leu283Val
NM_001292000.2:c.598C>G	NP_001278929.1:p.Leu200Val