Canonical Allele Identifier: CA121455
Gene: HSD17B10 HGNC NCBI

Linked Data

ClinVar Variation Id: 11444
ClinVar RCV Id: RCV000012197
dbSNP Id: rs122461163
MyVariant Identifiers: chrX:g.53458398T>C (hg19) chrX:g.53431450T>C (hg38)
PubMed: PMID:16148061
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53431450T>C , CM000685.2:g.53431450T>C GRCh38
NC_000023.10:g.53458398T>C , CM000685.1:g.53458398T>C GRCh37
NC_000023.9:g.53475123T>C NCBI36
NG_008153.1:g.7926A>G , LRG_450:g.7926A>G
NG_033076.2:g.13596T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000495986.2:n.857A>G
ENST00000682365.1:n.2489A>G
ENST00000684251.1:n.868A>G
ENST00000684692.1:c.*289A>G ENSP00000506792.1:n.*289A>G
ENST00000168216.11:c.740A>G MANE Select ENSP00000168216.6:p.Asn247Ser
ENST00000168216.10:c.740A>G ENSP00000168216.6:p.Asn247Ser
ENST00000375298.4:c.*121A>G ENSP00000364447.4:n.*121A>G
ENST00000375304.9:c.713A>G ENSP00000364453.5:p.Asn238Ser
ENST00000477706.1:n.364A>G
NM_001037811.2:c.713A>G , LRG_450t2:c.713A>G NP_001032900.1:p.Asn238Ser
NM_004493.2:c.740A>G , LRG_450t1:c.740A>G NP_004484.1:p.Asn247Ser
NM_004493.3:c.740A>G MANE Select NP_004484.1:p.Asn247Ser
Search 100 bp 5'
Search 100 bp 3'