Canonical Allele Identifier: CA203966
Gene: HOGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97611550T>C
GRCh37 chr10:g.99371307T>C
Revel Score:
ENST00000370647 0.987
ENST00000370646 (MANE Select) 0.987
gnomAD v4:
chr10-97611550-T-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000186485
ClinVar Variation:
204278
dbSNP:
796052087
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97611550T>C , CM000672.2:g.97611550T>C GRCh38
NC_000010.10:g.99371307T>C , CM000672.1:g.99371307T>C GRCh37
NC_000010.9:g.99361297T>C NCBI36
NG_027922.1:g.32206T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.875T>C MANE Select ENSP00000359680.4:p.Met292Thr
ENST00000370646.8:c.875T>C ENSP00000359680.4:p.Met292Thr
ENST00000370647.8:c.386T>C ENSP00000359681.4:p.Met129Thr
ENST00000370649.3:c.345+9560T>C ENSP00000359683.3:n.345+9560T>C
NM_001134670.1:c.386T>C NP_001128142.1:p.Met129Thr
NM_138413.3:c.875T>C NP_612422.2:p.Met292Thr
NM_138413.4:c.875T>C MANE Select NP_612422.2:p.Met292Thr
NM_001134670.2:c.386T>C NP_001128142.1:p.Met129Thr
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