Canonical Allele Identifier: CA203938
Gene: HOGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97584837C>T
GRCh37 chr10:g.99344594C>T
Revel Score:
ENST00000370647 0.869
ENST00000370646 (MANE Select) 0.869
ENST00000555577 0.869
ENST00000370649 0.869
gnomAD v2:
10:99344594 C / T
gnomAD v3:
10:97584837 C / T
gnomAD v4:
chr10-97584837-C-T
Joint Max Group AF 0.00066317 (SAS)
Exomes Max Group AF 0.00068984 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97584837C>T , CM000672.2:g.97584837C>T GRCh38
NC_000010.10:g.99344594C>T , CM000672.1:g.99344594C>T GRCh37
NC_000010.9:g.99334584C>T NCBI36
NG_027922.1:g.5493C>T
NG_034079.1:g.17397C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.134C>T MANE Select ENSP00000359680.4:p.Pro45Leu
ENST00000370646.8:c.134C>T ENSP00000359680.4:p.Pro45Leu
ENST00000370647.8:c.134C>T ENSP00000359681.4:p.Pro45Leu
ENST00000370649.3:c.134C>T ENSP00000359683.3:p.Pro45Leu
ENST00000465608.1:n.515C>T
NM_001134670.1:c.134C>T NP_001128142.1:p.Pro45Leu
NM_138413.3:c.134C>T NP_612422.2:p.Pro45Leu
NM_138413.4:c.134C>T MANE Select NP_612422.2:p.Pro45Leu
NM_001134670.2:c.134C>T NP_001128142.1:p.Pro45Leu
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