Canonical Allele Identifier: CA447226648
Gene: GLRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.151202465A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822904A>G , CM000667.2:g.151822904A>G GRCh38
NC_000005.9:g.151202465A>G , CM000667.1:g.151202465A>G GRCh37
NC_000005.8:g.151182658A>G NCBI36
NG_011764.1:g.106933T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1119T>C MANE Select ENSP00000274576.5:p.Cys373=
ENST00000274576.8:c.1119T>C ENSP00000274576.4:p.Cys373=
ENST00000455880.2:c.1143T>C ENSP00000411593.2:p.Cys381=
ENST00000462581.6:c.*877T>C ENSP00000430595.1:n.*877T>C
NM_000171.3:c.1119T>C NP_000162.2:p.Cys373=
NM_001146040.1:c.1143T>C NP_001139512.1:p.Cys381=
NM_001292000.1:c.870T>C NP_001278929.1:p.Cys290=
NM_000171.4:c.1119T>C MANE Select NP_000162.2:p.Cys373=
NM_001146040.2:c.1143T>C NP_001139512.1:p.Cys381=
NM_001292000.2:c.870T>C NP_001278929.1:p.Cys290=