Canonical Allele Identifier: CA361841125
Gene: GLRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151859783A>G , CM000667.2:g.151859783A>G GRCh38
NC_000005.9:g.151239344A>G , CM000667.1:g.151239344A>G GRCh37
NC_000005.8:g.151219537A>G NCBI36
NG_011764.1:g.70054T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.476+2T>C MANE Select ENSP00000274576.5:n.476+2T>C
ENST00000274576.8:c.476+2T>C ENSP00000274576.4:n.476+2T>C
ENST00000455880.2:c.476+2T>C ENSP00000411593.2:n.476+2T>C
ENST00000462581.6:c.*234+2T>C ENSP00000430595.1:n.*234+2T>C
ENST00000471351.2:n.759+2T>C
NM_000171.3:c.476+2T>C NP_000162.2:n.476+2T>C
NM_001146040.1:c.476+2T>C NP_001139512.1:n.476+2T>C
NM_001292000.1:c.227+2T>C NP_001278929.1:n.227+2T>C
XM_005268412.2:c.476+2T>C XP_005268469.1:n.476+2T>C
XR_002956230.1:n.229+1890A>G
NM_000171.4:c.476+2T>C MANE Select NP_000162.2:n.476+2T>C
NM_001146040.2:c.476+2T>C NP_001139512.1:n.476+2T>C
NM_001292000.2:c.227+2T>C NP_001278929.1:n.227+2T>C