Canonical Allele Identifier: CA3523554
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 971726
ClinVar RCV Id: RCV001247572 RCV003166559
dbSNP Id: rs148221542
ExAC: 5:151208513 A / G
gnomAD v2: 5-151208513-A-G
gnomAD v4: 5-151828952-A-G
MyVariant Identifiers: chr5:g.151208513A>G (hg19) chr5:g.151828952A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151828952A>G , CM000667.2:g.151828952A>G GRCh38
NC_000005.9:g.151208513A>G , CM000667.1:g.151208513A>G GRCh37
NC_000005.8:g.151188706A>G NCBI36
NG_011764.1:g.100885T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1028T>C MANE Select ENSP00000274576.5:p.Leu343Pro
ENST00000274576.8:c.1028T>C ENSP00000274576.4:p.Leu343Pro
ENST00000455880.2:c.1028T>C ENSP00000411593.2:p.Leu343Pro
ENST00000462581.6:c.*786T>C ENSP00000430595.1:n.*786T>C
NM_000171.3:c.1028T>C NP_000162.2:p.Leu343Pro
NM_001146040.1:c.1028T>C NP_001139512.1:p.Leu343Pro
NM_001292000.1:c.779T>C NP_001278929.1:p.Leu260Pro
NM_000171.4:c.1028T>C MANE Select NP_000162.2:p.Leu343Pro
NM_001146040.2:c.1028T>C NP_001139512.1:p.Leu343Pro
NM_001292000.2:c.779T>C NP_001278929.1:p.Leu260Pro
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