Canonical Allele Identifier: CA130010033
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 854867
ClinVar RCV Id: RCV002240381
dbSNP Id: rs752071816

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151828935G>A , CM000667.2:g.151828935G>A GRCh38
NC_000005.9:g.151208496G>A , CM000667.1:g.151208496G>A GRCh37
NC_000005.8:g.151188689G>A NCBI36
NG_011764.1:g.100902C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1045C>T MANE Select ENSP00000274576.5:p.Arg349Trp
ENST00000274576.8:c.1045C>T ENSP00000274576.4:p.Arg349Trp
ENST00000455880.2:c.1045C>T ENSP00000411593.2:p.Arg349Trp
ENST00000462581.6:c.*803C>T ENSP00000430595.1:n.*803C>T
NM_000171.3:c.1045C>T NP_000162.2:p.Arg349Trp
NM_001146040.1:c.1045C>T NP_001139512.1:p.Arg349Trp
NM_001292000.1:c.796C>T NP_001278929.1:p.Arg266Trp
NM_000171.4:c.1045C>T MANE Select NP_000162.2:p.Arg349Trp
NM_001146040.2:c.1045C>T NP_001139512.1:p.Arg349Trp
NM_001292000.2:c.796C>T NP_001278929.1:p.Arg266Trp