Canonical Allele Identifier: CA203940
Gene: HOGA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 204267
ClinVar RCV Id: RCV000186474
dbSNP Id: rs796052084
gnomAD v2: 10-99358541-T-G
gnomAD v3: 10-97598784-T-G
gnomAD v4: 10-97598784-T-G
MyVariant Identifiers: chr10:g.99358541T>G (hg19) chr10:g.97598784T>G (hg38)
PubMed: PMID:22781098
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97598784T>G , CM000672.2:g.97598784T>G GRCh38
NC_000010.10:g.99358541T>G , CM000672.1:g.99358541T>G GRCh37
NC_000010.9:g.99348531T>G NCBI36
NG_027922.1:g.19440T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370646.9:c.221T>G MANE Select ENSP00000359680.4:p.Val74Gly
ENST00000370646.8:c.221T>G ENSP00000359680.4:p.Val74Gly
ENST00000370647.8:c.212-3073T>G ENSP00000359681.4:n.212-3073T>G
ENST00000370649.3:c.212-3073T>G ENSP00000359683.3:n.212-3073T>G
ENST00000465608.1:n.602T>G
NM_001134670.1:c.212-3073T>G NP_001128142.1:n.212-3073T>G
NM_138413.3:c.221T>G NP_612422.2:p.Val74Gly
NM_138413.4:c.221T>G MANE Select NP_612422.2:p.Val74Gly
NM_001134670.2:c.212-3073T>G NP_001128142.1:n.212-3073T>G
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