Canonical Allele Identifier: CA2527174920
Gene: GLRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151859778A>G , CM000667.2:g.151859778A>G GRCh38
NC_000005.9:g.151239339A>G , CM000667.1:g.151239339A>G GRCh37
NC_000005.8:g.151219532A>G NCBI36
NG_011764.1:g.70059T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.476+7T>C MANE Select ENSP00000274576.5:n.476+7T>C
ENST00000274576.8:c.476+7T>C ENSP00000274576.4:n.476+7T>C
ENST00000455880.2:c.476+7T>C ENSP00000411593.2:n.476+7T>C
ENST00000462581.6:c.*234+7T>C ENSP00000430595.1:n.*234+7T>C
ENST00000471351.2:n.759+7T>C
NM_000171.3:c.476+7T>C NP_000162.2:n.476+7T>C
NM_001146040.1:c.476+7T>C NP_001139512.1:n.476+7T>C
NM_001292000.1:c.227+7T>C NP_001278929.1:n.227+7T>C
XM_005268412.2:c.476+7T>C XP_005268469.1:n.476+7T>C
XR_002956230.1:n.229+1885A>G
NM_000171.4:c.476+7T>C MANE Select NP_000162.2:n.476+7T>C
NM_001146040.2:c.476+7T>C NP_001139512.1:n.476+7T>C
NM_001292000.2:c.227+7T>C NP_001278929.1:n.227+7T>C