Canonical Allele Identifier: CA361851531

Gene: GLRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151828986C>T , CM000667.2:g.151828986C>T	GRCh38
NC_000005.9:g.151208547C>T , CM000667.1:g.151208547C>T	GRCh37
NC_000005.8:g.151188740C>T	NCBI36
NG_011764.1:g.100851G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000171.4:c.994G>A MANE Select	NP_000162.2:p.Val332Ile
ENST00000274576.9:c.994G>A MANE Select	ENSP00000274576.5:p.Val332Ile
NM_000171.3:c.994G>A	NP_000162.2:p.Val332Ile
NM_001146040.1:c.994G>A	NP_001139512.1:p.Val332Ile
NM_001146040.2:c.994G>A	NP_001139512.1:p.Val332Ile
NM_001292000.1:c.745G>A	NP_001278929.1:p.Val249Ile
NM_001292000.2:c.745G>A	NP_001278929.1:p.Val249Ile
ENST00000274576.8:c.994G>A	ENSP00000274576.4:p.Val332Ile
ENST00000455880.2:c.994G>A	ENSP00000411593.2:p.Val332Ile
ENST00000462581.6:c.*752G>A	ENSP00000430595.1:n.*752G>A