Canonical Allele Identifier: CA5634031
Gene: HOGA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2664386
ClinVar RCV Id: RCV003447346 RCV003708801
dbSNP Id: rs776628325
ExAC: 10:99358571 T / C
gnomAD v2: 10-99358571-T-C
MyVariant Identifiers: chr10:g.99358571T>C (hg19) chr10:g.97598814T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97598814T>C , CM000672.2:g.97598814T>C GRCh38
NC_000010.10:g.99358571T>C , CM000672.1:g.99358571T>C GRCh37
NC_000010.9:g.99348561T>C NCBI36
NG_027922.1:g.19470T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.251T>C MANE Select ENSP00000359680.4:p.Leu84Pro
ENST00000370646.8:c.251T>C ENSP00000359680.4:p.Leu84Pro
ENST00000370647.8:c.212-3043T>C ENSP00000359681.4:n.212-3043T>C
ENST00000370649.3:c.212-3043T>C ENSP00000359683.3:n.212-3043T>C
ENST00000465608.1:n.632T>C
NM_001134670.1:c.212-3043T>C NP_001128142.1:n.212-3043T>C
NM_138413.3:c.251T>C NP_612422.2:p.Leu84Pro
NM_138413.4:c.251T>C MANE Select NP_612422.2:p.Leu84Pro
NM_001134670.2:c.212-3043T>C NP_001128142.1:n.212-3043T>C
Search 100 bp 5'
Search 100 bp 3'