Canonical Allele Identifier: CA16621449
Gene: HSD17B10 HGNC NCBI

Linked Data

ClinVar Variation Id: 420778
ClinVar RCV Id: RCV000484484 RCV000623879 RCV001755724 RCV002274038
dbSNP Id: rs1064794694
MyVariant Identifiers: chrX:g.53458983G>A (hg19) chrX:g.53432035G>A (hg38)
PubMed: PMID:12112118 PMID:12555940 PMID:16148061 PMID:20077426 PMID:26950678
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53432035G>A , CM000685.2:g.53432035G>A GRCh38
NC_000023.10:g.53458983G>A , CM000685.1:g.53458983G>A GRCh37
NC_000023.9:g.53475708G>A NCBI36
NG_008153.1:g.7341C>T , LRG_450:g.7341C>T
NG_033076.2:g.14181G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000495986.2:n.583C>T
ENST00000682365.1:n.1904C>T
ENST00000684251.1:n.283C>T
ENST00000684503.1:n.604C>T
ENST00000684692.1:c.439C>T ENSP00000506792.1:p.Arg147Cys
ENST00000168216.11:c.439C>T MANE Select ENSP00000168216.6:p.Arg147Cys
ENST00000168216.10:c.439C>T ENSP00000168216.6:p.Arg147Cys
ENST00000375298.4:c.439C>T ENSP00000364447.4:p.Arg147Cys
ENST00000375304.9:c.439C>T ENSP00000364453.5:p.Arg147Cys
ENST00000477706.1:n.158C>T
ENST00000495986.1:n.571C>T
NM_001037811.2:c.439C>T , LRG_450t2:c.439C>T NP_001032900.1:p.Arg147Cys
NM_004493.2:c.439C>T , LRG_450t1:c.439C>T NP_004484.1:p.Arg147Cys
NM_004493.3:c.439C>T MANE Select NP_004484.1:p.Arg147Cys
Search 100 bp 5'
Search 100 bp 3'