Canonical Allele Identifier: CA361847840
Community Standard Title: NM_000171.4(GLRA1):c.184+1G>A
Gene: GLRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151892310C>T , CM000667.2:g.151892310C>T GRCh38
NC_000005.9:g.151271871C>T , CM000667.1:g.151271871C>T GRCh37
NC_000005.8:g.151252064C>T NCBI36
NG_011764.1:g.37527G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000171.4:c.184+1G>A MANE Select NP_000162.2:n.184+1G>A
ENST00000274576.9:c.184+1G>A MANE Select ENSP00000274576.5:n.184+1G>A
NM_000171.3:c.184+1G>A NP_000162.2:n.184+1G>A
NM_001146040.1:c.184+1G>A NP_001139512.1:n.184+1G>A
NM_001146040.2:c.184+1G>A NP_001139512.1:n.184+1G>A
NM_001292000.1:c.-65-5522G>A NP_001278929.1:n.-65-5522G>A
NM_001292000.2:c.-65-5522G>A NP_001278929.1:n.-65-5522G>A
ENST00000274576.8:c.184+1G>A ENSP00000274576.4:n.184+1G>A
ENST00000455880.2:c.184+1G>A ENSP00000411593.2:n.184+1G>A
ENST00000462581.6:c.57-5522G>A ENSP00000430595.1:n.57-5522G>A
ENST00000471351.2:n.467+1G>A
XM_005268412.2:c.184+1G>A XP_005268469.1:n.184+1G>A
XR_002956230.1:n.3214C>T