Canonical Allele Identifier: CA413152619

Gene: HSD17B10

Linked Data

• MyVariant Identifiers: chrX:g.53459200G>C (hg19) ; chrX:g.53432252G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432252G>C , CM000685.2:g.53432252G>C	GRCh38
NC_000023.10:g.53459200G>C , CM000685.1:g.53459200G>C	GRCh37
NC_000023.9:g.53475925G>C	NCBI36
NG_008153.1:g.7124C>G , LRG_450:g.7124C>G
NG_033076.2:g.14398G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.496C>G
ENST00000682365.1:n.1687C>G
ENST00000684251.1:n.196C>G
ENST00000684503.1:n.517C>G
ENST00000684692.1:c.352C>G	ENSP00000506792.1:p.Leu118Val
ENST00000168216.11:c.352C>G MANE Select	ENSP00000168216.6:p.Leu118Val
ENST00000168216.10:c.352C>G	ENSP00000168216.6:p.Leu118Val
ENST00000375298.4:c.352C>G	ENSP00000364447.4:p.Leu118Val
ENST00000375304.9:c.352C>G	ENSP00000364453.5:p.Leu118Val
ENST00000477706.1:n.71C>G
ENST00000495986.1:n.484C>G
NM_001037811.2:c.352C>G , LRG_450t2:c.352C>G	NP_001032900.1:p.Leu118Val
NM_004493.2:c.352C>G , LRG_450t1:c.352C>G	NP_004484.1:p.Leu118Val
NM_004493.3:c.352C>G MANE Select	NP_004484.1:p.Leu118Val