Canonical Allele Identifier: CA5634256
Gene: HOGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97601990G>T
GRCh37 chr10:g.99361747G>T
gnomAD v2:
10:99361747 G / T
gnomAD v3:
10:97601990 G / T
gnomAD v4:
chr10-97601990-G-T
Joint Max Group AF 0.00022341 (EAS)
Genomes Max Group AF 0.00007285 (SAS)
Exomes Max Group AF 0.00021303 (EAS)
ClinVar RCV:
RCV001107905
ClinVar Variation:
879961
dbSNP:
770050262
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97601990G>T , CM000672.2:g.97601990G>T GRCh38
NC_000010.10:g.99361747G>T , CM000672.1:g.99361747G>T GRCh37
NC_000010.9:g.99351737G>T NCBI36
NG_027922.1:g.22646G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.834G>T MANE Select ENSP00000359680.4:p.Ala278=
ENST00000370642.4:c.244G>T
ENST00000370646.8:c.834G>T ENSP00000359680.4:p.Ala278=
ENST00000370647.8:c.345G>T ENSP00000359681.4:p.Ala115=
ENST00000370649.3:c.345G>T ENSP00000359683.3:p.Ala115=
NM_001134670.1:c.345G>T NP_001128142.1:p.Ala115=
NM_138413.3:c.834G>T NP_612422.2:p.Ala278=
NM_138413.4:c.834G>T MANE Select NP_612422.2:p.Ala278=
NM_001134670.2:c.345G>T NP_001128142.1:p.Ala115=
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