Canonical Allele Identifier: CA113813

Gene: HOGA1

Linked Data

• ClinVar Variation Id: 30
• ClinVar RCV Id: RCV000000047 ; RCV000798240
• dbSNP Id: rs138207257
• ExAC: 10:99371292 G / T
• gnomAD v2: 10-99371292-G-T
• gnomAD v3: 10-97611535-G-T
• gnomAD v4: 10-97611535-G-T
• MyVariant Identifiers: chr10:g.99371292G>T (hg19) ; chr10:g.97611535G>T (hg38)
• PubMed: PMID:20797690

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.97611535G>T , CM000672.2:g.97611535G>T	GRCh38
NC_000010.10:g.99371292G>T , CM000672.1:g.99371292G>T	GRCh37
NC_000010.9:g.99361282G>T	NCBI36
NG_027922.1:g.32191G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370646.9:c.860G>T MANE Select	ENSP00000359680.4:p.Gly287Val
ENST00000370646.8:c.860G>T	ENSP00000359680.4:p.Gly287Val
ENST00000370647.8:c.371G>T	ENSP00000359681.4:p.Gly124Val
ENST00000370649.3:c.345+9545G>T	ENSP00000359683.3:n.345+9545G>T
NM_001134670.1:c.371G>T	NP_001128142.1:p.Gly124Val
NM_138413.3:c.860G>T	NP_612422.2:p.Gly287Val
NM_138413.4:c.860G>T MANE Select	NP_612422.2:p.Gly287Val
NM_001134670.2:c.371G>T	NP_001128142.1:p.Gly124Val