Canonical Allele Identifier: CA5634043
Gene: HOGA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 725502
ClinVar RCV Id: RCV000899572 RCV001830960
dbSNP Id: rs772566254
ExAC: 10:99358629 C / T
gnomAD v2: 10-99358629-C-T
gnomAD v3: 10-97598872-C-T
gnomAD v4: 10-97598872-C-T
MyVariant Identifiers: chr10:g.99358629C>T (hg19) chr10:g.97598872C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97598872C>T , CM000672.2:g.97598872C>T GRCh38
NC_000010.10:g.99358629C>T , CM000672.1:g.99358629C>T GRCh37
NC_000010.9:g.99348619C>T NCBI36
NG_027922.1:g.19528C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370646.9:c.309C>T MANE Select ENSP00000359680.4:p.Asn103=
ENST00000370646.8:c.309C>T ENSP00000359680.4:p.Asn103=
ENST00000370647.8:c.212-2985C>T ENSP00000359681.4:n.212-2985C>T
ENST00000370649.3:c.212-2985C>T ENSP00000359683.3:n.212-2985C>T
ENST00000465608.1:n.690C>T
NM_001134670.1:c.212-2985C>T NP_001128142.1:n.212-2985C>T
NM_138413.3:c.309C>T NP_612422.2:p.Asn103=
NM_138413.4:c.309C>T MANE Select NP_612422.2:p.Asn103=
NM_001134670.2:c.212-2985C>T NP_001128142.1:n.212-2985C>T
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