Canonical Allele Identifier: CA1591582315
Community Standard Title: NM_000171.4(GLRA1):c.277C= (p.Arg93=)
Gene: GLRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151859984G= , CM000667.2:g.151859984G= GRCh38
NC_000005.9:g.151239545G= , CM000667.1:g.151239545G= GRCh37
NC_000005.8:g.151219738G= NCBI36
NG_011764.1:g.69853C=

Transcript Alleles

HGVS Amino-acid Change
NM_000171.4:c.277C= MANE Select NP_000162.2:p.Arg93=
ENST00000274576.9:c.277C= MANE Select ENSP00000274576.5:p.Arg93=
NM_000171.3:c.277C= NP_000162.2:p.Arg93=
NM_001146040.1:c.277C= NP_001139512.1:p.Arg93=
NM_001146040.2:c.277C= NP_001139512.1:p.Arg93=
NM_001292000.1:c.28C= NP_001278929.1:p.Arg10=
NM_001292000.2:c.28C= NP_001278929.1:p.Arg10=
ENST00000274576.8:c.277C= ENSP00000274576.4:p.Arg93=
ENST00000455880.2:c.277C= ENSP00000411593.2:p.Arg93=
ENST00000462581.6:c.*35C= ENSP00000430595.1:n.*35C=
ENST00000471351.2:n.560C=
XM_005268412.2:c.277C= XP_005268469.1:p.Arg93=
XR_002956230.1:n.229+2091G=