Canonical Allele Identifier: CA121447

Gene: HSD17B10

Linked Data

• ClinVar Variation Id: 11442
• ClinVar RCV Id: RCV000012195 ; RCV001224055
• dbSNP Id: rs28935475
• MyVariant Identifiers: chrX:g.53459034G>A (hg19) ; chrX:g.53432086G>A (hg38)
• PubMed: PMID:11102558 ; PMID:12112118 ; PMID:12696021 ; PMID:12872843 ; PMID:16148061 ; PMID:16176262 ; PMID:17618155 ; PMID:20077426

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432086G>A , CM000685.2:g.53432086G>A	GRCh38
NC_000023.10:g.53459034G>A , CM000685.1:g.53459034G>A	GRCh37
NC_000023.9:g.53475759G>A	NCBI36
NG_008153.1:g.7290C>T , LRG_450:g.7290C>T
NG_033076.2:g.14232G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.532C>T
ENST00000682365.1:n.1853C>T
ENST00000684251.1:n.232C>T
ENST00000684503.1:n.553C>T
ENST00000684692.1:c.388C>T	ENSP00000506792.1:p.Arg130Cys
ENST00000168216.11:c.388C>T MANE Select	ENSP00000168216.6:p.Arg130Cys
ENST00000168216.10:c.388C>T	ENSP00000168216.6:p.Arg130Cys
ENST00000375298.4:c.388C>T	ENSP00000364447.4:p.Arg130Cys
ENST00000375304.9:c.388C>T	ENSP00000364453.5:p.Arg130Cys
ENST00000477706.1:n.107C>T
ENST00000495986.1:n.520C>T
NM_001037811.2:c.388C>T , LRG_450t2:c.388C>T	NP_001032900.1:p.Arg130Cys
NM_004493.2:c.388C>T , LRG_450t1:c.388C>T	NP_004484.1:p.Arg130Cys
NM_004493.3:c.388C>T MANE Select	NP_004484.1:p.Arg130Cys