Canonical Allele Identifier: CA447420333

Gene: GLRA1

Linked Data

• dbSNP Id: rs1381731804
• gnomAD v2: 5-151239347-T-G
• gnomAD v4: 5-151859786-T-G
• MyVariant Identifiers: chr5:g.151239347T>G (hg19) ; chr5:g.151859786T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151859786T>G , CM000667.2:g.151859786T>G	GRCh38
NC_000005.9:g.151239347T>G , CM000667.1:g.151239347T>G	GRCh37
NC_000005.8:g.151219540T>G	NCBI36
NG_011764.1:g.70051A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.475A>C MANE Select	ENSP00000274576.5:p.Arg159=
ENST00000274576.8:c.475A>C	ENSP00000274576.4:p.Arg159=
ENST00000455880.2:c.475A>C	ENSP00000411593.2:p.Arg159=
ENST00000462581.6:c.*233A>C	ENSP00000430595.1:n.*233A>C
ENST00000471351.2:n.758A>C
NM_000171.3:c.475A>C	NP_000162.2:p.Arg159=
NM_001146040.1:c.475A>C	NP_001139512.1:p.Arg159=
NM_001292000.1:c.226A>C	NP_001278929.1:p.Arg76=
XM_005268412.2:c.475A>C	XP_005268469.1:p.Arg159=
XR_002956230.1:n.229+1893T>G
NM_000171.4:c.475A>C MANE Select	NP_000162.2:p.Arg159=
NM_001146040.2:c.475A>C	NP_001139512.1:p.Arg159=
NM_001292000.2:c.226A>C	NP_001278929.1:p.Arg76=