Canonical Allele Identifier: CA447226128
Gene: GLRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.151271923G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151892362G>A , CM000667.2:g.151892362G>A GRCh38
NC_000005.9:g.151271923G>A , CM000667.1:g.151271923G>A GRCh37
NC_000005.8:g.151252116G>A NCBI36
NG_011764.1:g.37475C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274576.9:c.133C>T MANE Select ENSP00000274576.5:p.Leu45=
ENST00000274576.8:c.133C>T ENSP00000274576.4:p.Leu45=
ENST00000455880.2:c.133C>T ENSP00000411593.2:p.Leu45=
ENST00000462581.6:c.57-5574C>T ENSP00000430595.1:n.57-5574C>T
ENST00000471351.2:n.416C>T
NM_000171.3:c.133C>T NP_000162.2:p.Leu45=
NM_001146040.1:c.133C>T NP_001139512.1:p.Leu45=
NM_001292000.1:c.-65-5574C>T NP_001278929.1:n.-65-5574C>T
XM_005268412.2:c.133C>T XP_005268469.1:p.Leu45=
XR_002956230.1:n.3266G>A
NM_000171.4:c.133C>T MANE Select NP_000162.2:p.Leu45=
NM_001146040.2:c.133C>T NP_001139512.1:p.Leu45=
NM_001292000.2:c.-65-5574C>T NP_001278929.1:n.-65-5574C>T