Canonical Allele Identifier: CA5634325
Gene: HOGA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 763089
ClinVar RCV Id: RCV000941296
dbSNP Id: rs768941544
ExAC: 10:99371404 C / T
gnomAD v2: 10-99371404-C-T
gnomAD v3: 10-97611647-C-T
gnomAD v4: 10-97611647-C-T
MyVariant Identifiers: chr10:g.99371404C>T (hg19) chr10:g.97611647C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97611647C>T , CM000672.2:g.97611647C>T GRCh38
NC_000010.10:g.99371404C>T , CM000672.1:g.99371404C>T GRCh37
NC_000010.9:g.99361394C>T NCBI36
NG_027922.1:g.32303C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.972C>T MANE Select ENSP00000359680.4:p.Asn324=
ENST00000370646.8:c.972C>T ENSP00000359680.4:p.Asn324=
ENST00000370647.8:c.483C>T ENSP00000359681.4:p.Asn161=
ENST00000370649.3:c.345+9657C>T ENSP00000359683.3:n.345+9657C>T
NM_001134670.1:c.483C>T NP_001128142.1:p.Asn161=
NM_138413.3:c.972C>T NP_612422.2:p.Asn324=
NM_138413.4:c.972C>T MANE Select NP_612422.2:p.Asn324=
NM_001134670.2:c.483C>T NP_001128142.1:p.Asn161=
Search 100 bp 5'
Search 100 bp 3'