Canonical Allele Identifier: CA341359

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 16061
• ClinVar RCV Id: RCV000017439 ; RCV001256113 ; RCV001376594
• dbSNP Id: rs121918408
• gnomAD v4: 5-151851406-C-T
• MyVariant Identifiers: chr5:g.151230967C>T (hg19) ; chr5:g.151851406C>T (hg38)
• PubMed: PMID:1334371 ; PMID:7518444 ; PMID:7611730 ; PMID:7881416 ; PMID:7981700 ; PMID:8298642 ; PMID:8733061 ; PMID:20301437 ; PMID:28617419

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.896G>A MANE Select	ENSP00000274576.5:p.Arg299Gln
ENST00000274576.8:c.896G>A	ENSP00000274576.4:p.Arg299Gln
ENST00000455880.2:c.896G>A	ENSP00000411593.2:p.Arg299Gln
ENST00000462581.6:c.*654G>A	ENSP00000430595.1:n.*654G>A
ENST00000471351.2:n.1179G>A
NM_000171.3:c.896G>A	NP_000162.2:p.Arg299Gln
NM_001146040.1:c.896G>A	NP_001139512.1:p.Arg299Gln
NM_001292000.1:c.647G>A	NP_001278929.1:p.Arg216Gln
XM_005268412.2:c.896G>A	XP_005268469.1:p.Arg299Gln
NM_000171.4:c.896G>A MANE Select	NP_000162.2:p.Arg299Gln
NM_001146040.2:c.896G>A	NP_001139512.1:p.Arg299Gln
NM_001292000.2:c.647G>A	NP_001278929.1:p.Arg216Gln