Canonical Allele Identifier: CA341365

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 16064
• ClinVar RCV Id: RCV000017442
• dbSNP Id: rs121918411
• MyVariant Identifiers: chr5:g.151230981C>G (hg19) ; chr5:g.151851420C>G (hg38)
• PubMed: PMID:8571969 ; PMID:20301437

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851420C>G , CM000667.2:g.151851420C>G	GRCh38
NC_000005.9:g.151230981C>G , CM000667.1:g.151230981C>G	GRCh37
NC_000005.8:g.151211174C>G	NCBI36
NG_011764.1:g.78417G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.882G>C MANE Select	ENSP00000274576.5:p.Gln294His
ENST00000274576.8:c.882G>C	ENSP00000274576.4:p.Gln294His
ENST00000455880.2:c.882G>C	ENSP00000411593.2:p.Gln294His
ENST00000462581.6:c.*640G>C	ENSP00000430595.1:n.*640G>C
ENST00000471351.2:n.1165G>C
NM_000171.3:c.882G>C	NP_000162.2:p.Gln294His
NM_001146040.1:c.882G>C	NP_001139512.1:p.Gln294His
NM_001292000.1:c.633G>C	NP_001278929.1:p.Gln211His
XM_005268412.2:c.882G>C	XP_005268469.1:p.Gln294His
NM_000171.4:c.882G>C MANE Select	NP_000162.2:p.Gln294His
NM_001146040.2:c.882G>C	NP_001139512.1:p.Gln294His
NM_001292000.2:c.633G>C	NP_001278929.1:p.Gln211His