Canonical Allele Identifier: CA129989462

Gene: GLRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151856388G>A , CM000667.2:g.151856388G>A	GRCh38
NC_000005.9:g.151235949G>A , CM000667.1:g.151235949G>A	GRCh37
NC_000005.8:g.151216142G>A	NCBI36
NG_011764.1:g.73449C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000171.4:c.477-5C>T MANE Select	NP_000162.2:n.477-5C>T
ENST00000274576.9:c.477-5C>T MANE Select	ENSP00000274576.5:n.477-5C>T
NM_000171.3:c.477-5C>T	NP_000162.2:n.477-5C>T
NM_001146040.1:c.477-5C>T	NP_001139512.1:n.477-5C>T
NM_001146040.2:c.477-5C>T	NP_001139512.1:n.477-5C>T
NM_001292000.1:c.228-5C>T	NP_001278929.1:n.228-5C>T
NM_001292000.2:c.228-5C>T	NP_001278929.1:n.228-5C>T
ENST00000274576.8:c.477-5C>T	ENSP00000274576.4:n.477-5C>T
ENST00000455880.2:c.477-5C>T	ENSP00000411593.2:n.477-5C>T
ENST00000462581.6:c.*235-5C>T	ENSP00000430595.1:n.*235-5C>T
ENST00000471351.2:n.760-5C>T
XM_005268412.2:c.477-5C>T	XP_005268469.1:n.477-5C>T
XR_002956230.1:n.42-1318G>A