Canonical Allele Identifier: CA341357

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 16060
• ClinVar RCV Id: RCV000017438
• dbSNP Id: rs121918408
• MyVariant Identifiers: chr5:g.151230967C>A (hg19) ; chr5:g.151851406C>A (hg38)
• PubMed: PMID:1334371 ; PMID:7518444 ; PMID:8298642 ; PMID:20301437

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851406C>A , CM000667.2:g.151851406C>A	GRCh38
NC_000005.9:g.151230967C>A , CM000667.1:g.151230967C>A	GRCh37
NC_000005.8:g.151211160C>A	NCBI36
NG_011764.1:g.78431G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.896G>T MANE Select	ENSP00000274576.5:p.Arg299Leu
ENST00000274576.8:c.896G>T	ENSP00000274576.4:p.Arg299Leu
ENST00000455880.2:c.896G>T	ENSP00000411593.2:p.Arg299Leu
ENST00000462581.6:c.*654G>T	ENSP00000430595.1:n.*654G>T
ENST00000471351.2:n.1179G>T
NM_000171.3:c.896G>T	NP_000162.2:p.Arg299Leu
NM_001146040.1:c.896G>T	NP_001139512.1:p.Arg299Leu
NM_001292000.1:c.647G>T	NP_001278929.1:p.Arg216Leu
XM_005268412.2:c.896G>T	XP_005268469.1:p.Arg299Leu
NM_000171.4:c.896G>T MANE Select	NP_000162.2:p.Arg299Leu
NM_001146040.2:c.896G>T	NP_001139512.1:p.Arg299Leu
NM_001292000.2:c.647G>T	NP_001278929.1:p.Arg216Leu