Canonical Allele Identifier: CA3523569
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 707256
ClinVar RCV Id: RCV000878178
dbSNP Id: rs150716717
ExAC: 5:151208626 C / T
gnomAD v2: 5-151208626-C-T
gnomAD v3: 5-151829065-C-T
gnomAD v4: 5-151829065-C-T
MyVariant Identifiers: chr5:g.151208626C>T (hg19) chr5:g.151829065C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151829065C>T , CM000667.2:g.151829065C>T GRCh38
NC_000005.9:g.151208626C>T , CM000667.1:g.151208626C>T GRCh37
NC_000005.8:g.151188819C>T NCBI36
NG_011764.1:g.100772G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.915G>A MANE Select ENSP00000274576.5:p.Val305=
ENST00000274576.8:c.915G>A ENSP00000274576.4:p.Val305=
ENST00000455880.2:c.915G>A ENSP00000411593.2:p.Val305=
ENST00000462581.6:c.*673G>A ENSP00000430595.1:n.*673G>A
NM_000171.3:c.915G>A NP_000162.2:p.Val305=
NM_001146040.1:c.915G>A NP_001139512.1:p.Val305=
NM_001292000.1:c.666G>A NP_001278929.1:p.Val222=
NM_000171.4:c.915G>A MANE Select NP_000162.2:p.Val305=
NM_001146040.2:c.915G>A NP_001139512.1:p.Val305=
NM_001292000.2:c.666G>A NP_001278929.1:p.Val222=
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