Canonical Allele Identifier: CA377983214
Gene: HOGA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2664408
ClinVar RCV Id: RCV003447368
dbSNP Id: rs553573861

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97611519C>T , CM000672.2:g.97611519C>T GRCh38
NC_000010.10:g.99371276C>T , CM000672.1:g.99371276C>T GRCh37
NC_000010.9:g.99361266C>T NCBI36
NG_027922.1:g.32175C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.844C>T MANE Select ENSP00000359680.4:p.Arg282Cys
ENST00000370646.8:c.844C>T ENSP00000359680.4:p.Arg282Cys
ENST00000370647.8:c.355C>T ENSP00000359681.4:p.Arg119Cys
ENST00000370649.3:c.345+9529C>T ENSP00000359683.3:n.345+9529C>T
NM_001134670.1:c.355C>T NP_001128142.1:p.Arg119Cys
NM_138413.3:c.844C>T NP_612422.2:p.Arg282Cys
NM_138413.4:c.844C>T MANE Select NP_612422.2:p.Arg282Cys
NM_001134670.2:c.355C>T NP_001128142.1:p.Arg119Cys