Canonical Allele Identifier: CA516675310

Gene: HSD17B10

Linked Data

• ClinVar Variation Id: 2660612
• ClinVar RCV Id: RCV003438386
• dbSNP Id: rs1431860249
• gnomAD v2: X-53459195-A-G
• gnomAD v4: X-53432247-A-G
• MyVariant Identifiers: chrX:g.53459195A>G (hg19) ; chrX:g.53432247A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432247A>G , CM000685.2:g.53432247A>G	GRCh38
NC_000023.10:g.53459195A>G , CM000685.1:g.53459195A>G	GRCh37
NC_000023.9:g.53475920A>G	NCBI36
NG_008153.1:g.7129T>C , LRG_450:g.7129T>C
NG_033076.2:g.14393A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.501T>C
ENST00000682365.1:n.1692T>C
ENST00000684251.1:n.201T>C
ENST00000684503.1:n.522T>C
ENST00000684692.1:c.357T>C	ENSP00000506792.1:p.Asp119=
ENST00000168216.11:c.357T>C MANE Select	ENSP00000168216.6:p.Asp119=
ENST00000168216.10:c.357T>C	ENSP00000168216.6:p.Asp119=
ENST00000375298.4:c.357T>C	ENSP00000364447.4:p.Asp119=
ENST00000375304.9:c.357T>C	ENSP00000364453.5:p.Asp119=
ENST00000477706.1:n.76T>C
ENST00000495986.1:n.489T>C
NM_001037811.2:c.357T>C , LRG_450t2:c.357T>C	NP_001032900.1:p.Asp119=
NM_004493.2:c.357T>C , LRG_450t1:c.357T>C	NP_004484.1:p.Asp119=
NM_004493.3:c.357T>C MANE Select	NP_004484.1:p.Asp119=