Canonical Allele Identifier: CA413153218

Gene: HSD17B10

Linked Data

• ClinVar Variation Id: 1175821
• ClinVar RCV Id: RCV001531151
• dbSNP Id: rs2146628349
• MyVariant Identifiers: chrX:g.53459309C>G (hg19) ; chrX:g.53432361C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432361C>G , CM000685.2:g.53432361C>G	GRCh38
NC_000023.10:g.53459309C>G , CM000685.1:g.53459309C>G	GRCh37
NC_000023.9:g.53476034C>G	NCBI36
NG_008153.1:g.7015G>C , LRG_450:g.7015G>C
NG_033076.2:g.14507C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.387G>C
ENST00000682365.1:n.1578G>C
ENST00000684251.1:n.87G>C
ENST00000684503.1:n.408G>C
ENST00000684692.1:c.243G>C	ENSP00000506792.1:p.Lys81Asn
ENST00000168216.11:c.243G>C MANE Select	ENSP00000168216.6:p.Lys81Asn
ENST00000168216.10:c.243G>C	ENSP00000168216.6:p.Lys81Asn
ENST00000375298.4:c.243G>C	ENSP00000364447.4:p.Lys81Asn
ENST00000375304.9:c.243G>C	ENSP00000364453.5:p.Lys81Asn
ENST00000495986.1:n.375G>C
NM_001037811.2:c.243G>C , LRG_450t2:c.243G>C	NP_001032900.1:p.Lys81Asn
NM_004493.2:c.243G>C , LRG_450t1:c.243G>C	NP_004484.1:p.Lys81Asn
NM_004493.3:c.243G>C MANE Select	NP_004484.1:p.Lys81Asn