Canonical Allele Identifier: CA3523719

Gene: GLRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151859969C>T , CM000667.2:g.151859969C>T	GRCh38
NC_000005.9:g.151239530C>T , CM000667.1:g.151239530C>T	GRCh37
NC_000005.8:g.151219723C>T	NCBI36
NG_011764.1:g.69868G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000171.4:c.292G>A MANE Select	NP_000162.2:p.Asp98Asn
ENST00000274576.9:c.292G>A MANE Select	ENSP00000274576.5:p.Asp98Asn
NM_000171.3:c.292G>A	NP_000162.2:p.Asp98Asn
NM_001146040.1:c.292G>A	NP_001139512.1:p.Asp98Asn
NM_001146040.2:c.292G>A	NP_001139512.1:p.Asp98Asn
NM_001292000.1:c.43G>A	NP_001278929.1:p.Asp15Asn
NM_001292000.2:c.43G>A	NP_001278929.1:p.Asp15Asn
ENST00000274576.8:c.292G>A	ENSP00000274576.4:p.Asp98Asn
ENST00000455880.2:c.292G>A	ENSP00000411593.2:p.Asp98Asn
ENST00000462581.6:c.*50G>A	ENSP00000430595.1:n.*50G>A
ENST00000471351.2:n.575G>A
XM_005268412.2:c.292G>A	XP_005268469.1:p.Asp98Asn
XR_002956230.1:n.229+2076C>T