Canonical Allele Identifier: CA212673030
Gene: HOGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97599746C>T
GRCh37 chr10:g.99359503C>T
Revel Score:
ENST00000370646 (MANE Select) 0.633
gnomAD v2:
10:99359503 C / T
gnomAD v3:
10:97599746 C / T
gnomAD v4:
chr10-97599746-C-T
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV003445282
ClinVar Variation:
2664136
dbSNP:
374327791
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97599746C>T , CM000672.2:g.97599746C>T GRCh38
NC_000010.10:g.99359503C>T , CM000672.1:g.99359503C>T GRCh37
NC_000010.9:g.99349493C>T NCBI36
NG_027922.1:g.20402C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.535C>T MANE Select ENSP00000359680.4:p.Pro179Ser
ENST00000370646.8:c.535C>T ENSP00000359680.4:p.Pro179Ser
ENST00000370647.8:c.212-2111C>T ENSP00000359681.4:n.212-2111C>T
ENST00000370649.3:c.212-2111C>T ENSP00000359683.3:n.212-2111C>T
ENST00000465608.1:n.1379C>T
NM_001134670.1:c.212-2111C>T NP_001128142.1:n.212-2111C>T
NM_138413.3:c.535C>T NP_612422.2:p.Pro179Ser
NM_138413.4:c.535C>T MANE Select NP_612422.2:p.Pro179Ser
NM_001134670.2:c.212-2111C>T NP_001128142.1:n.212-2111C>T
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