Canonical Allele Identifier: CA361900000
Community Standard Title: NM_000171.4(GLRA1):c.22C>T (p.Arg8Ter)
Gene: GLRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151924528G>A , CM000667.2:g.151924528G>A GRCh38
NC_000005.9:g.151304089G>A , CM000667.1:g.151304089G>A GRCh37
NC_000005.8:g.151284282G>A NCBI36
NG_011764.1:g.5309C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000171.4:c.22C>T MANE Select NP_000162.2:p.Arg8Ter
ENST00000274576.9:c.22C>T MANE Select ENSP00000274576.5:p.Arg8Ter
NM_000171.3:c.22C>T NP_000162.2:p.Arg8Ter
NM_001146040.1:c.22C>T NP_001139512.1:p.Arg8Ter
NM_001146040.2:c.22C>T NP_001139512.1:p.Arg8Ter
NM_001292000.1:c.-100C>T NP_001278929.1:n.-100C>T
NM_001292000.2:c.-100C>T NP_001278929.1:n.-100C>T
ENST00000274576.8:c.22C>T ENSP00000274576.4:p.Arg8Ter
ENST00000455880.2:c.22C>T ENSP00000411593.2:p.Arg8Ter
ENST00000462581.6:c.22C>T ENSP00000430595.1:p.Arg8Ter
ENST00000471351.2:n.305C>T
XM_005268412.2:c.22C>T XP_005268469.1:p.Arg8Ter