Canonical Allele Identifier: CA3523489
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 842196
ClinVar RCV Id: RCV001044575 RCV001312209
dbSNP Id: rs62636581
ExAC: 5:151202403 G / C
gnomAD v2: 5-151202403-G-C
gnomAD v3: 5-151822842-G-C
gnomAD v4: 5-151822842-G-C
MyVariant Identifiers: chr5:g.151202403G>C (hg19) chr5:g.151822842G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822842G>C , CM000667.2:g.151822842G>C GRCh38
NC_000005.9:g.151202403G>C , CM000667.1:g.151202403G>C GRCh37
NC_000005.8:g.151182596G>C NCBI36
NG_011764.1:g.106995C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1181C>G MANE Select ENSP00000274576.5:p.Pro394Arg
ENST00000274576.8:c.1181C>G ENSP00000274576.4:p.Pro394Arg
ENST00000455880.2:c.1205C>G ENSP00000411593.2:p.Pro402Arg
ENST00000462581.6:c.*939C>G ENSP00000430595.1:n.*939C>G
NM_000171.3:c.1181C>G NP_000162.2:p.Pro394Arg
NM_001146040.1:c.1205C>G NP_001139512.1:p.Pro402Arg
NM_001292000.1:c.932C>G NP_001278929.1:p.Pro311Arg
NM_000171.4:c.1181C>G MANE Select NP_000162.2:p.Pro394Arg
NM_001146040.2:c.1205C>G NP_001139512.1:p.Pro402Arg
NM_001292000.2:c.932C>G NP_001278929.1:p.Pro311Arg
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