Canonical Allele Identifier: CA3523493
Gene: GLRA1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.151822849T>C
GRCh37 chr5:g.151202410T>C
Revel Score:
ENST00000274576 (MANE Select) 0.293
ENST00000455880 0.293
ENST00000545569 0.293
gnomAD v2:
5:151202410 T / C
gnomAD v3:
5:151822849 T / C
gnomAD v4:
chr5-151822849-T-C
Joint Max Group AF 0.00014384 (AFR)
Genomes Max Group AF 0.00007896 (AFR)
Exomes Max Group AF 0.0001613 (AFR)
ClinVar RCV:
RCV000639749
ClinVar Variation:
532840
dbSNP:
775599403
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822849T>C , CM000667.2:g.151822849T>C GRCh38
NC_000005.9:g.151202410T>C , CM000667.1:g.151202410T>C GRCh37
NC_000005.8:g.151182603T>C NCBI36
NG_011764.1:g.106988A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1174A>G MANE Select ENSP00000274576.5:p.Asn392Asp
ENST00000274576.8:c.1174A>G ENSP00000274576.4:p.Asn392Asp
ENST00000455880.2:c.1198A>G ENSP00000411593.2:p.Asn400Asp
ENST00000462581.6:c.*932A>G ENSP00000430595.1:n.*932A>G
NM_000171.3:c.1174A>G NP_000162.2:p.Asn392Asp
NM_001146040.1:c.1198A>G NP_001139512.1:p.Asn400Asp
NM_001292000.1:c.925A>G NP_001278929.1:p.Asn309Asp
NM_000171.4:c.1174A>G MANE Select NP_000162.2:p.Asn392Asp
NM_001146040.2:c.1198A>G NP_001139512.1:p.Asn400Asp
NM_001292000.2:c.925A>G NP_001278929.1:p.Asn309Asp
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