Canonical Allele Identifier: CA3523602

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 1324483
• ClinVar RCV Id: RCV001782203 ; RCV002034594
• dbSNP Id: rs751659671
• ExAC: 5:151231127 G / A
• gnomAD v2: 5-151231127-G-A
• gnomAD v4: 5-151851566-G-A
• COSMIC: COSM39722
• MyVariant Identifiers: chr5:g.151231127G>A (hg19) ; chr5:g.151851566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851566G>A , CM000667.2:g.151851566G>A	GRCh38
NC_000005.9:g.151231127G>A , CM000667.1:g.151231127G>A	GRCh37
NC_000005.8:g.151211320G>A	NCBI36
NG_011764.1:g.78271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.736C>T MANE Select	ENSP00000274576.5:p.Arg246Trp
ENST00000274576.8:c.736C>T	ENSP00000274576.4:p.Arg246Trp
ENST00000455880.2:c.736C>T	ENSP00000411593.2:p.Arg246Trp
ENST00000462581.6:c.*494C>T	ENSP00000430595.1:n.*494C>T
ENST00000471351.2:n.1019C>T
NM_000171.3:c.736C>T	NP_000162.2:p.Arg246Trp
NM_001146040.1:c.736C>T	NP_001139512.1:p.Arg246Trp
NM_001292000.1:c.487C>T	NP_001278929.1:p.Arg163Trp
XM_005268412.2:c.736C>T	XP_005268469.1:p.Arg246Trp
NM_000171.4:c.736C>T MANE Select	NP_000162.2:p.Arg246Trp
NM_001146040.2:c.736C>T	NP_001139512.1:p.Arg246Trp
NM_001292000.2:c.487C>T	NP_001278929.1:p.Arg163Trp