Canonical Allele Identifier: CA413150543

Gene: HSD17B10

Linked Data

• ClinVar Variation Id: 496894
• ClinVar RCV Id: RCV000591328 ; RCV001843531
• dbSNP Id: rs1556894502
• MyVariant Identifiers: chrX:g.53458461C>T (hg19) ; chrX:g.53431513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53431513C>T , CM000685.2:g.53431513C>T	GRCh38
NC_000023.10:g.53458461C>T , CM000685.1:g.53458461C>T	GRCh37
NC_000023.9:g.53475186C>T	NCBI36
NG_008153.1:g.7863G>A , LRG_450:g.7863G>A
NG_033076.2:g.13659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.794G>A
ENST00000682365.1:n.2426G>A
ENST00000684251.1:n.805G>A
ENST00000684503.1:n.842G>A
ENST00000684692.1:c.*226G>A	ENSP00000506792.1:n.*226G>A
ENST00000168216.11:c.677G>A MANE Select	ENSP00000168216.6:p.Arg226Gln
ENST00000168216.10:c.677G>A	ENSP00000168216.6:p.Arg226Gln
ENST00000375298.4:c.*58G>A	ENSP00000364447.4:n.*58G>A
ENST00000375304.9:c.650G>A	ENSP00000364453.5:p.Arg217Gln
ENST00000477706.1:n.301G>A
NM_001037811.2:c.650G>A , LRG_450t2:c.650G>A	NP_001032900.1:p.Arg217Gln
NM_004493.2:c.677G>A , LRG_450t1:c.677G>A	NP_004484.1:p.Arg226Gln
NM_004493.3:c.677G>A MANE Select	NP_004484.1:p.Arg226Gln