Canonical Allele Identifier: CA121451

Gene: HSD17B10

Linked Data

• ClinVar Variation Id: 11443
• ClinVar RCV Id: RCV000012196 ; RCV002307362
• dbSNP Id: rs28935476
• ExAC: X:53459058 G / C
• gnomAD v2: X-53459058-G-C
• gnomAD v3: X-53432110-G-C
• gnomAD v4: X-53432110-G-C
• MyVariant Identifiers: chrX:g.53459058G>C (hg19) ; chrX:g.53432110G>C (hg38)
• PubMed: PMID:12696021

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432110G>C , CM000685.2:g.53432110G>C	GRCh38
NC_000023.10:g.53459058G>C , CM000685.1:g.53459058G>C	GRCh37
NC_000023.9:g.53475783G>C	NCBI36
NG_008153.1:g.7266C>G , LRG_450:g.7266C>G
NG_033076.2:g.14256G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.508C>G
ENST00000682365.1:n.1829C>G
ENST00000684251.1:n.208C>G
ENST00000684503.1:n.529C>G
ENST00000684692.1:c.364C>G	ENSP00000506792.1:p.Leu122Val
ENST00000168216.11:c.364C>G MANE Select	ENSP00000168216.6:p.Leu122Val
ENST00000168216.10:c.364C>G	ENSP00000168216.6:p.Leu122Val
ENST00000375298.4:c.364C>G	ENSP00000364447.4:p.Leu122Val
ENST00000375304.9:c.364C>G	ENSP00000364453.5:p.Leu122Val
ENST00000477706.1:n.83C>G
ENST00000495986.1:n.496C>G
NM_001037811.2:c.364C>G , LRG_450t2:c.364C>G	NP_001032900.1:p.Leu122Val
NM_004493.2:c.364C>G , LRG_450t1:c.364C>G	NP_004484.1:p.Leu122Val
NM_004493.3:c.364C>G MANE Select	NP_004484.1:p.Leu122Val