Canonical Allele Identifier: CA121459

Gene: HSD17B10

Linked Data

• ClinVar Variation Id: 11445
• ClinVar RCV Id: RCV000012198
• dbSNP Id: rs122462164
• MyVariant Identifiers: chrX:g.53458767G>T (hg19) ; chrX:g.53431819G>T (hg38)
• PubMed: PMID:10521307 ; PMID:17236142

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53431819G>T , CM000685.2:g.53431819G>T	GRCh38
NC_000023.10:g.53458767G>T , CM000685.1:g.53458767G>T	GRCh37
NC_000023.9:g.53475492G>T	NCBI36
NG_008153.1:g.7557C>A , LRG_450:g.7557C>A
NG_033076.2:g.13965G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.712+6C>A
ENST00000682365.1:n.2120C>A
ENST00000684251.1:n.499C>A
ENST00000684503.1:n.739C>A
ENST00000684692.1:c.574C>A	ENSP00000506792.1:p.Arg192=
ENST00000168216.11:c.574C>A MANE Select	ENSP00000168216.6:p.Arg192=
ENST00000168216.10:c.574C>A	ENSP00000168216.6:p.Arg192=
ENST00000375298.4:c.486+169C>A	ENSP00000364447.4:n.486+169C>A
ENST00000375304.9:c.568+6C>A	ENSP00000364453.5:n.568+6C>A
ENST00000477706.1:n.219+155C>A
NM_001037811.2:c.568+6C>A , LRG_450t2:c.568+6C>A	NP_001032900.1:n.568+6C>A
NM_004493.2:c.574C>A , LRG_450t1:c.574C>A	NP_004484.1:p.Arg192=
NM_004493.3:c.574C>A MANE Select	NP_004484.1:p.Arg192=