Canonical Allele Identifier: CA361837598

Gene: GLRA1

Linked Data

• gnomAD v4: 5-151851467-C-T
• MyVariant Identifiers: chr5:g.151231028C>T (hg19) ; chr5:g.151851467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851467C>T , CM000667.2:g.151851467C>T	GRCh38
NC_000005.9:g.151231028C>T , CM000667.1:g.151231028C>T	GRCh37
NC_000005.8:g.151211221C>T	NCBI36
NG_011764.1:g.78370G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.835G>A MANE Select	ENSP00000274576.5:p.Ala279Thr
ENST00000274576.8:c.835G>A	ENSP00000274576.4:p.Ala279Thr
ENST00000455880.2:c.835G>A	ENSP00000411593.2:p.Ala279Thr
ENST00000462581.6:c.*593G>A	ENSP00000430595.1:n.*593G>A
ENST00000471351.2:n.1118G>A
NM_000171.3:c.835G>A	NP_000162.2:p.Ala279Thr
NM_001146040.1:c.835G>A	NP_001139512.1:p.Ala279Thr
NM_001292000.1:c.586G>A	NP_001278929.1:p.Ala196Thr
XM_005268412.2:c.835G>A	XP_005268469.1:p.Ala279Thr
NM_000171.4:c.835G>A MANE Select	NP_000162.2:p.Ala279Thr
NM_001146040.2:c.835G>A	NP_001139512.1:p.Ala279Thr
NM_001292000.2:c.586G>A	NP_001278929.1:p.Ala196Thr