Canonical Allele Identifier: CA413154301
Gene: HSD17B10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2744815
ClinVar RCV Id: RCV003565805
gnomAD v4: X-53433771-T-G

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