Canonical Allele Identifier: CA3523451
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3002261
ClinVar RCV Id: RCV003865388
dbSNP Id: rs773707878
ExAC: 5:151202243 G / T
gnomAD v2: 5-151202243-G-T
gnomAD v4: 5-151822682-G-T
MyVariant Identifiers: chr5:g.151202243G>T (hg19) chr5:g.151822682G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822682G>T , CM000667.2:g.151822682G>T GRCh38
NC_000005.9:g.151202243G>T , CM000667.1:g.151202243G>T GRCh37
NC_000005.8:g.151182436G>T NCBI36
NG_011764.1:g.107155C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1341C>A MANE Select ENSP00000274576.5:p.His447Gln
ENST00000274576.8:c.1341C>A ENSP00000274576.4:p.His447Gln
ENST00000455880.2:c.1365C>A ENSP00000411593.2:p.His455Gln
ENST00000462581.6:c.*1099C>A ENSP00000430595.1:n.*1099C>A
NM_000171.3:c.1341C>A NP_000162.2:p.His447Gln
NM_001146040.1:c.1365C>A NP_001139512.1:p.His455Gln
NM_001292000.1:c.1092C>A NP_001278929.1:p.His364Gln
NM_000171.4:c.1341C>A MANE Select NP_000162.2:p.His447Gln
NM_001146040.2:c.1365C>A NP_001139512.1:p.His455Gln
NM_001292000.2:c.1092C>A NP_001278929.1:p.His364Gln
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