Canonical Allele Identifier: CA361837770

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 2708040
• ClinVar RCV Id: RCV003596371
• MyVariant Identifiers: chr5:g.151231062C>A (hg19) ; chr5:g.151851501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851501C>A , CM000667.2:g.151851501C>A	GRCh38
NC_000005.9:g.151231062C>A , CM000667.1:g.151231062C>A	GRCh37
NC_000005.8:g.151211255C>A	NCBI36
NG_011764.1:g.78336G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.801G>T MANE Select	ENSP00000274576.5:p.Trp267Cys
ENST00000274576.8:c.801G>T	ENSP00000274576.4:p.Trp267Cys
ENST00000455880.2:c.801G>T	ENSP00000411593.2:p.Trp267Cys
ENST00000462581.6:c.*559G>T	ENSP00000430595.1:n.*559G>T
ENST00000471351.2:n.1084G>T
NM_000171.3:c.801G>T	NP_000162.2:p.Trp267Cys
NM_001146040.1:c.801G>T	NP_001139512.1:p.Trp267Cys
NM_001292000.1:c.552G>T	NP_001278929.1:p.Trp184Cys
XM_005268412.2:c.801G>T	XP_005268469.1:p.Trp267Cys
NM_000171.4:c.801G>T MANE Select	NP_000162.2:p.Trp267Cys
NM_001146040.2:c.801G>T	NP_001139512.1:p.Trp267Cys
NM_001292000.2:c.552G>T	NP_001278929.1:p.Trp184Cys