Canonical Allele Identifier: CA3523647

Gene: GLRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151855168G>A , CM000667.2:g.151855168G>A	GRCh38
NC_000005.9:g.151234729G>A , CM000667.1:g.151234729G>A	GRCh37
NC_000005.8:g.151214922G>A	NCBI36
NG_011764.1:g.74669C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000171.4:c.569C>T MANE Select	NP_000162.2:p.Thr190Met
ENST00000274576.9:c.569C>T MANE Select	ENSP00000274576.5:p.Thr190Met
NM_000171.3:c.569C>T	NP_000162.2:p.Thr190Met
NM_001146040.1:c.569C>T	NP_001139512.1:p.Thr190Met
NM_001146040.2:c.569C>T	NP_001139512.1:p.Thr190Met
NM_001292000.1:c.320C>T	NP_001278929.1:p.Thr107Met
NM_001292000.2:c.320C>T	NP_001278929.1:p.Thr107Met
ENST00000274576.8:c.569C>T	ENSP00000274576.4:p.Thr190Met
ENST00000455880.2:c.569C>T	ENSP00000411593.2:p.Thr190Met
ENST00000462581.6:c.*327C>T	ENSP00000430595.1:n.*327C>T
ENST00000471351.2:n.852C>T
XM_005268412.2:c.569C>T	XP_005268469.1:p.Thr190Met
XR_002956230.1:n.41+1780G>A