Canonical Allele Identifier: CA361847830

Gene: GLRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151892309A>G , CM000667.2:g.151892309A>G	GRCh38
NC_000005.9:g.151271870A>G , CM000667.1:g.151271870A>G	GRCh37
NC_000005.8:g.151252063A>G	NCBI36
NG_011764.1:g.37528T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000171.4:c.184+2T>C MANE Select	NP_000162.2:n.184+2T>C
ENST00000274576.9:c.184+2T>C MANE Select	ENSP00000274576.5:n.184+2T>C
NM_000171.3:c.184+2T>C	NP_000162.2:n.184+2T>C
NM_001146040.1:c.184+2T>C	NP_001139512.1:n.184+2T>C
NM_001146040.2:c.184+2T>C	NP_001139512.1:n.184+2T>C
NM_001292000.1:c.-65-5521T>C	NP_001278929.1:n.-65-5521T>C
NM_001292000.2:c.-65-5521T>C	NP_001278929.1:n.-65-5521T>C
ENST00000274576.8:c.184+2T>C	ENSP00000274576.4:n.184+2T>C
ENST00000455880.2:c.184+2T>C	ENSP00000411593.2:n.184+2T>C
ENST00000462581.6:c.57-5521T>C	ENSP00000430595.1:n.57-5521T>C
ENST00000471351.2:n.467+2T>C
XM_005268412.2:c.184+2T>C	XP_005268469.1:n.184+2T>C
XR_002956230.1:n.3213A>G