Canonical Allele Identifier: CA361838308
Gene: GLRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851597G>T , CM000667.2:g.151851597G>T GRCh38
NC_000005.9:g.151231158G>T , CM000667.1:g.151231158G>T GRCh37
NC_000005.8:g.151211351G>T NCBI36
NG_011764.1:g.78240C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274576.9:c.705C>A MANE Select ENSP00000274576.5:p.Phe235Leu
ENST00000274576.8:c.705C>A ENSP00000274576.4:p.Phe235Leu
ENST00000455880.2:c.705C>A ENSP00000411593.2:p.Phe235Leu
ENST00000462581.6:c.*463C>A ENSP00000430595.1:n.*463C>A
ENST00000471351.2:n.988C>A
NM_000171.3:c.705C>A NP_000162.2:p.Phe235Leu
NM_001146040.1:c.705C>A NP_001139512.1:p.Phe235Leu
NM_001292000.1:c.456C>A NP_001278929.1:p.Phe152Leu
XM_005268412.2:c.705C>A XP_005268469.1:p.Phe235Leu
NM_000171.4:c.705C>A MANE Select NP_000162.2:p.Phe235Leu
NM_001146040.2:c.705C>A NP_001139512.1:p.Phe235Leu
NM_001292000.2:c.456C>A NP_001278929.1:p.Phe152Leu