Canonical Allele Identifier: CA3523702
Gene: GLRA1 HGNC NCBI
COSMIC:
COSM299237
MyVariant.info:
GRCh38 chr5:g.151859812C>T
GRCh37 chr5:g.151239373C>T
Revel Score:
ENST00000274576 (MANE Select) 0.229
ENST00000455880 0.229
ENST00000545569 0.229
gnomAD v2:
5:151239373 C / T
gnomAD v3:
5:151859812 C / T
gnomAD v4:
chr5-151859812-C-T
Joint Max Group AF 0.00033155 (EAS)
Genomes Max Group AF 0.00026337 (EAS)
Exomes Max Group AF 0.00029302 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151859812C>T , CM000667.2:g.151859812C>T GRCh38
NC_000005.9:g.151239373C>T , CM000667.1:g.151239373C>T GRCh37
NC_000005.8:g.151219566C>T NCBI36
NG_011764.1:g.70025G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.449G>A MANE Select ENSP00000274576.5:p.Arg150Gln
ENST00000274576.8:c.449G>A ENSP00000274576.4:p.Arg150Gln
ENST00000455880.2:c.449G>A ENSP00000411593.2:p.Arg150Gln
ENST00000462581.6:c.*207G>A ENSP00000430595.1:n.*207G>A
ENST00000471351.2:n.732G>A
NM_000171.3:c.449G>A NP_000162.2:p.Arg150Gln
NM_001146040.1:c.449G>A NP_001139512.1:p.Arg150Gln
NM_001292000.1:c.200G>A NP_001278929.1:p.Arg67Gln
XM_005268412.2:c.449G>A XP_005268469.1:p.Arg150Gln
XR_002956230.1:n.229+1919C>T
NM_000171.4:c.449G>A MANE Select NP_000162.2:p.Arg150Gln
NM_001146040.2:c.449G>A NP_001139512.1:p.Arg150Gln
NM_001292000.2:c.200G>A NP_001278929.1:p.Arg67Gln
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