Canonical Allele Identifier: CA361842185

Gene: GLRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151859977T>G , CM000667.2:g.151859977T>G	GRCh38
NC_000005.9:g.151239538T>G , CM000667.1:g.151239538T>G	GRCh37
NC_000005.8:g.151219731T>G	NCBI36
NG_011764.1:g.69860A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000171.4:c.284A>C MANE Select	NP_000162.2:p.Gln95Pro
ENST00000274576.9:c.284A>C MANE Select	ENSP00000274576.5:p.Gln95Pro
NM_000171.3:c.284A>C	NP_000162.2:p.Gln95Pro
NM_001146040.1:c.284A>C	NP_001139512.1:p.Gln95Pro
NM_001146040.2:c.284A>C	NP_001139512.1:p.Gln95Pro
NM_001292000.1:c.35A>C	NP_001278929.1:p.Gln12Pro
NM_001292000.2:c.35A>C	NP_001278929.1:p.Gln12Pro
ENST00000274576.8:c.284A>C	ENSP00000274576.4:p.Gln95Pro
ENST00000455880.2:c.284A>C	ENSP00000411593.2:p.Gln95Pro
ENST00000462581.6:c.*42A>C	ENSP00000430595.1:n.*42A>C
ENST00000471351.2:n.567A>C
XM_005268412.2:c.284A>C	XP_005268469.1:p.Gln95Pro
XR_002956230.1:n.229+2084T>G