Canonical Allele Identifier: CA361851278
Gene: GLRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151828938T>C , CM000667.2:g.151828938T>C GRCh38
NC_000005.9:g.151208499T>C , CM000667.1:g.151208499T>C GRCh37
NC_000005.8:g.151188692T>C NCBI36
NG_011764.1:g.100899A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1042A>G MANE Select ENSP00000274576.5:p.Lys348Glu
ENST00000274576.8:c.1042A>G ENSP00000274576.4:p.Lys348Glu
ENST00000455880.2:c.1042A>G ENSP00000411593.2:p.Lys348Glu
ENST00000462581.6:c.*800A>G ENSP00000430595.1:n.*800A>G
NM_000171.3:c.1042A>G NP_000162.2:p.Lys348Glu
NM_001146040.1:c.1042A>G NP_001139512.1:p.Lys348Glu
NM_001292000.1:c.793A>G NP_001278929.1:p.Lys265Glu
NM_000171.4:c.1042A>G MANE Select NP_000162.2:p.Lys348Glu
NM_001146040.2:c.1042A>G NP_001139512.1:p.Lys348Glu
NM_001292000.2:c.793A>G NP_001278929.1:p.Lys265Glu