Canonical Allele Identifier: CA471092049
Gene: HOGA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2094479
ClinVar RCV Id: RCV003021359
dbSNP Id: rs1333379297
gnomAD v2: 10-99359544-T-C
gnomAD v3: 10-97599787-T-C
gnomAD v4: 10-97599787-T-C
MyVariant Identifiers: chr10:g.99359544T>C (hg19) chr10:g.97599787T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97599787T>C , CM000672.2:g.97599787T>C GRCh38
NC_000010.10:g.99359544T>C , CM000672.1:g.99359544T>C GRCh37
NC_000010.9:g.99349534T>C NCBI36
NG_027922.1:g.20443T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.576T>C MANE Select ENSP00000359680.4:p.Ile192=
ENST00000370646.8:c.576T>C ENSP00000359680.4:p.Ile192=
ENST00000370647.8:c.212-2070T>C ENSP00000359681.4:n.212-2070T>C
ENST00000370649.3:c.212-2070T>C ENSP00000359683.3:n.212-2070T>C
ENST00000465608.1:n.1420T>C
NM_001134670.1:c.212-2070T>C NP_001128142.1:n.212-2070T>C
NM_138413.3:c.576T>C NP_612422.2:p.Ile192=
NM_138413.4:c.576T>C MANE Select NP_612422.2:p.Ile192=
NM_001134670.2:c.212-2070T>C NP_001128142.1:n.212-2070T>C
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