Canonical Allele Identifier: CA3523626

Gene: GLRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151855041T>C , CM000667.2:g.151855041T>C	GRCh38
NC_000005.9:g.151234602T>C , CM000667.1:g.151234602T>C	GRCh37
NC_000005.8:g.151214795T>C	NCBI36
NG_011764.1:g.74796A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000171.4:c.696A>G MANE Select	NP_000162.2:p.Thr232=
ENST00000274576.9:c.696A>G MANE Select	ENSP00000274576.5:p.Thr232=
NM_000171.3:c.696A>G	NP_000162.2:p.Thr232=
NM_001146040.1:c.696A>G	NP_001139512.1:p.Thr232=
NM_001146040.2:c.696A>G	NP_001139512.1:p.Thr232=
NM_001292000.1:c.447A>G	NP_001278929.1:p.Thr149=
NM_001292000.2:c.447A>G	NP_001278929.1:p.Thr149=
ENST00000274576.8:c.696A>G	ENSP00000274576.4:p.Thr232=
ENST00000455880.2:c.696A>G	ENSP00000411593.2:p.Thr232=
ENST00000462581.6:c.*454A>G	ENSP00000430595.1:n.*454A>G
ENST00000471351.2:n.979A>G
XM_005268412.2:c.696A>G	XP_005268469.1:p.Thr232=
XR_002956230.1:n.41+1653T>C