Canonical Allele Identifier: CA341377

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 16071
• ClinVar RCV Id: RCV000017449
• dbSNP Id: rs121918417
• MyVariant Identifiers: chr5:g.151231086G>C (hg19) ; chr5:g.151851525G>C (hg38)
• PubMed: PMID:11973623 ; PMID:20301437

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851525G>C , CM000667.2:g.151851525G>C	GRCh38
NC_000005.9:g.151231086G>C , CM000667.1:g.151231086G>C	GRCh37
NC_000005.8:g.151211279G>C	NCBI36
NG_011764.1:g.78312C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.777C>G MANE Select	ENSP00000274576.5:p.Ser259Arg
ENST00000274576.8:c.777C>G	ENSP00000274576.4:p.Ser259Arg
ENST00000455880.2:c.777C>G	ENSP00000411593.2:p.Ser259Arg
ENST00000462581.6:c.*535C>G	ENSP00000430595.1:n.*535C>G
ENST00000471351.2:n.1060C>G
NM_000171.3:c.777C>G	NP_000162.2:p.Ser259Arg
NM_001146040.1:c.777C>G	NP_001139512.1:p.Ser259Arg
NM_001292000.1:c.528C>G	NP_001278929.1:p.Ser176Arg
XM_005268412.2:c.777C>G	XP_005268469.1:p.Ser259Arg
NM_000171.4:c.777C>G MANE Select	NP_000162.2:p.Ser259Arg
NM_001146040.2:c.777C>G	NP_001139512.1:p.Ser259Arg
NM_001292000.2:c.528C>G	NP_001278929.1:p.Ser176Arg