Canonical Allele Identifier: CA329176292

Gene: HSD17B10

Linked Data

• dbSNP Id: rs782212120
• gnomAD v4: X-53432182-T-G
• MyVariant Identifiers: chrX:g.53459130T>G (hg19) ; chrX:g.53432182T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432182T>G , CM000685.2:g.53432182T>G	GRCh38
NC_000023.10:g.53459130T>G , CM000685.1:g.53459130T>G	GRCh37
NC_000023.9:g.53475855T>G	NCBI36
NG_008153.1:g.7194A>C , LRG_450:g.7194A>C
NG_033076.2:g.14328T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.502-66A>C
ENST00000682365.1:n.1757A>C
ENST00000684251.1:n.202-66A>C
ENST00000684503.1:n.523-66A>C
ENST00000684692.1:c.358-66A>C	ENSP00000506792.1:n.358-66A>C
ENST00000168216.11:c.358-66A>C MANE Select	ENSP00000168216.6:n.358-66A>C
ENST00000168216.10:c.358-66A>C	ENSP00000168216.6:n.358-66A>C
ENST00000375298.4:c.358-66A>C	ENSP00000364447.4:n.358-66A>C
ENST00000375304.9:c.358-66A>C	ENSP00000364453.5:n.358-66A>C
ENST00000477706.1:n.77-66A>C
ENST00000495986.1:n.490-66A>C
NM_001037811.2:c.358-66A>C , LRG_450t2:c.358-66A>C	NP_001032900.1:n.358-66A>C
NM_004493.2:c.358-66A>C , LRG_450t1:c.358-66A>C	NP_004484.1:n.358-66A>C
NM_004493.3:c.358-66A>C MANE Select	NP_004484.1:n.358-66A>C