Canonical Allele Identifier: CA356537
Gene: GLRA1 HGNC NCBI
ClinVar RCV:
RCV000358468
RCV000544789
ClinVar Variation:
242680
COSMIC:
COSM1064655
dbSNP:
281864919
gnomAD v2:
5:151202325 C / T
gnomAD v4:
chr5-151822764-C-T
Joint Max Group AF 0.00015353 (AMR)
Exomes Max Group AF 0.00020652 (AMR)
MyVariant.info:
GRCh38 chr5:g.151822764C>T
GRCh37 chr5:g.151202325C>T
Revel Score:
ENST00000274576 (MANE Select) 0.906
ENST00000455880 0.906
ENST00000545569 0.906
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822764C>T , CM000667.2:g.151822764C>T GRCh38
NC_000005.9:g.151202325C>T , CM000667.1:g.151202325C>T GRCh37
NC_000005.8:g.151182518C>T NCBI36
NG_011764.1:g.107073G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1259G>A MANE Select ENSP00000274576.5:p.Arg420His
ENST00000274576.8:c.1259G>A ENSP00000274576.4:p.Arg420His
ENST00000455880.2:c.1283G>A ENSP00000411593.2:p.Arg428His
ENST00000462581.6:c.*1017G>A ENSP00000430595.1:n.*1017G>A
NM_000171.3:c.1259G>A NP_000162.2:p.Arg420His
NM_001146040.1:c.1283G>A NP_001139512.1:p.Arg428His
NM_001292000.1:c.1010G>A NP_001278929.1:p.Arg337His
NM_000171.4:c.1259G>A MANE Select NP_000162.2:p.Arg420His
NM_001146040.2:c.1283G>A NP_001139512.1:p.Arg428His
NM_001292000.2:c.1010G>A NP_001278929.1:p.Arg337His
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