Canonical Allele Identifier: CA222732
Gene: HSD17B10 HGNC NCBI

Linked Data

ClinVar Variation Id: 95101
ClinVar RCV Id: RCV000081106 RCV000488826
dbSNP Id: rs104886492
MyVariant Identifiers: chrX:g.53459358A>G (hg19) chrX:g.53432410A>G (hg38)
PubMed: PMID:22132097
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53432410A>G , CM000685.2:g.53432410A>G GRCh38
NC_000023.10:g.53459358A>G , CM000685.1:g.53459358A>G GRCh37
NC_000023.9:g.53476083A>G NCBI36
NG_008153.1:g.6966T>C , LRG_450:g.6966T>C
NG_033076.2:g.14556A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000495986.2:n.338T>C
ENST00000682365.1:n.1529T>C
ENST00000684251.1:n.38T>C
ENST00000684503.1:n.359T>C
ENST00000684692.1:c.194T>C ENSP00000506792.1:p.Val65Ala
ENST00000168216.11:c.194T>C MANE Select ENSP00000168216.6:p.Val65Ala
ENST00000168216.10:c.194T>C ENSP00000168216.6:p.Val65Ala
ENST00000375298.4:c.194T>C ENSP00000364447.4:p.Val65Ala
ENST00000375304.9:c.194T>C ENSP00000364453.5:p.Val65Ala
ENST00000495986.1:n.326T>C
NM_001037811.2:c.194T>C , LRG_450t2:c.194T>C NP_001032900.1:p.Val65Ala
NM_004493.2:c.194T>C , LRG_450t1:c.194T>C NP_004484.1:p.Val65Ala
NM_004493.3:c.194T>C MANE Select NP_004484.1:p.Val65Ala
Search 100 bp 5'
Search 100 bp 3'