Canonical Allele Identifier: CA5634162
Gene: HOGA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2201105
ClinVar RCV Id: RCV003294592 RCV002638562
dbSNP Id: rs375436098
ExAC: 10:99359563 G / A
gnomAD v2: 10-99359563-G-A
gnomAD v3: 10-97599806-G-A
gnomAD v4: 10-97599806-G-A
COSMIC: COSM1203506
MyVariant Identifiers: chr10:g.99359563G>A (hg19) chr10:g.97599806G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97599806G>A , CM000672.2:g.97599806G>A GRCh38
NC_000010.10:g.99359563G>A , CM000672.1:g.99359563G>A GRCh37
NC_000010.9:g.99349553G>A NCBI36
NG_027922.1:g.20462G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.595G>A MANE Select ENSP00000359680.4:p.Gly199Ser
ENST00000370642.4:c.5G>A
ENST00000370646.8:c.595G>A ENSP00000359680.4:p.Gly199Ser
ENST00000370647.8:c.212-2051G>A ENSP00000359681.4:n.212-2051G>A
ENST00000370649.3:c.212-2051G>A ENSP00000359683.3:n.212-2051G>A
ENST00000465608.1:n.1439G>A
NM_001134670.1:c.212-2051G>A NP_001128142.1:n.212-2051G>A
NM_138413.3:c.595G>A NP_612422.2:p.Gly199Ser
NM_138413.4:c.595G>A MANE Select NP_612422.2:p.Gly199Ser
NM_001134670.2:c.212-2051G>A NP_001128142.1:n.212-2051G>A
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