Canonical Allele Identifier: CA377983346
Gene: HOGA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522534
ClinVar RCV Id: RCV000625677
dbSNP Id: rs1554875257
MyVariant Identifiers: chr10:g.99371304T>C (hg19) chr10:g.97611547T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97611547T>C , CM000672.2:g.97611547T>C GRCh38
NC_000010.10:g.99371304T>C , CM000672.1:g.99371304T>C GRCh37
NC_000010.9:g.99361294T>C NCBI36
NG_027922.1:g.32203T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.872T>C MANE Select ENSP00000359680.4:p.Ile291Thr
ENST00000370646.8:c.872T>C ENSP00000359680.4:p.Ile291Thr
ENST00000370647.8:c.383T>C ENSP00000359681.4:p.Ile128Thr
ENST00000370649.3:c.345+9557T>C ENSP00000359683.3:n.345+9557T>C
NM_001134670.1:c.383T>C NP_001128142.1:p.Ile128Thr
NM_138413.3:c.872T>C NP_612422.2:p.Ile291Thr
NM_138413.4:c.872T>C MANE Select NP_612422.2:p.Ile291Thr
NM_001134670.2:c.383T>C NP_001128142.1:p.Ile128Thr
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