Canonical Allele Identifier: CA361851557
Gene: GLRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151828992C>T , CM000667.2:g.151828992C>T GRCh38
NC_000005.9:g.151208553C>T , CM000667.1:g.151208553C>T GRCh37
NC_000005.8:g.151188746C>T NCBI36
NG_011764.1:g.100845G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.988G>A MANE Select ENSP00000274576.5:p.Ala330Thr
ENST00000274576.8:c.988G>A ENSP00000274576.4:p.Ala330Thr
ENST00000455880.2:c.988G>A ENSP00000411593.2:p.Ala330Thr
ENST00000462581.6:c.*746G>A ENSP00000430595.1:n.*746G>A
NM_000171.3:c.988G>A NP_000162.2:p.Ala330Thr
NM_001146040.1:c.988G>A NP_001139512.1:p.Ala330Thr
NM_001292000.1:c.739G>A NP_001278929.1:p.Ala247Thr
NM_000171.4:c.988G>A MANE Select NP_000162.2:p.Ala330Thr
NM_001146040.2:c.988G>A NP_001139512.1:p.Ala330Thr
NM_001292000.2:c.739G>A NP_001278929.1:p.Ala247Thr