Canonical Allele Identifier: CA413154301

Gene: HSD17B10

Linked Data

• ClinVar Variation Id: 2744815
• ClinVar RCV Id: RCV003565805
• gnomAD v4: X-53433771-T-G
• MyVariant Identifiers: chrX:g.53460718T>G (hg19) ; chrX:g.53433771T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53433771T>G , CM000685.2:g.53433771T>G	GRCh38
NC_000023.10:g.53460718T>G , CM000685.1:g.53460718T>G	GRCh37
NC_000023.9:g.53477443T>G	NCBI36
NG_008153.1:g.5606A>C , LRG_450:g.5606A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.287A>C
ENST00000682365.1:n.168A>C
ENST00000684692.1:c.143A>C	ENSP00000506792.1:p.Glu48Ala
ENST00000168216.11:c.143A>C MANE Select	ENSP00000168216.6:p.Glu48Ala
ENST00000168216.10:c.143A>C	ENSP00000168216.6:p.Glu48Ala
ENST00000375298.4:c.143A>C	ENSP00000364447.4:p.Glu48Ala
ENST00000375304.9:c.143A>C	ENSP00000364453.5:p.Glu48Ala
ENST00000495986.1:n.275A>C
NM_001037811.2:c.143A>C , LRG_450t2:c.143A>C	NP_001032900.1:p.Glu48Ala
NM_004493.2:c.143A>C , LRG_450t1:c.143A>C	NP_004484.1:p.Glu48Ala
NM_004493.3:c.143A>C MANE Select	NP_004484.1:p.Glu48Ala