Canonical Allele Identifier: CA447226742
Gene: GLRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.151208521C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151828960C>T , CM000667.2:g.151828960C>T GRCh38
NC_000005.9:g.151208521C>T , CM000667.1:g.151208521C>T GRCh37
NC_000005.8:g.151188714C>T NCBI36
NG_011764.1:g.100877G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1020G>A MANE Select ENSP00000274576.5:p.Lys340=
ENST00000274576.8:c.1020G>A ENSP00000274576.4:p.Lys340=
ENST00000455880.2:c.1020G>A ENSP00000411593.2:p.Lys340=
ENST00000462581.6:c.*778G>A ENSP00000430595.1:n.*778G>A
NM_000171.3:c.1020G>A NP_000162.2:p.Lys340=
NM_001146040.1:c.1020G>A NP_001139512.1:p.Lys340=
NM_001292000.1:c.771G>A NP_001278929.1:p.Lys257=
NM_000171.4:c.1020G>A MANE Select NP_000162.2:p.Lys340=
NM_001146040.2:c.1020G>A NP_001139512.1:p.Lys340=
NM_001292000.2:c.771G>A NP_001278929.1:p.Lys257=