Canonical Allele Identifier: CA10421025

Gene: HSD17B10

Linked Data

• ClinVar Variation Id: 2335350
• ClinVar RCV Id: RCV002921690
• dbSNP Id: rs781966115
• ExAC: X:53459319 G / A
• gnomAD v2: X-53459319-G-A
• gnomAD v3: X-53432371-G-A
• gnomAD v4: X-53432371-G-A
• MyVariant Identifiers: chrX:g.53459319G>A (hg19) ; chrX:g.53432371G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432371G>A , CM000685.2:g.53432371G>A	GRCh38
NC_000023.10:g.53459319G>A , CM000685.1:g.53459319G>A	GRCh37
NC_000023.9:g.53476044G>A	NCBI36
NG_008153.1:g.7005C>T , LRG_450:g.7005C>T
NG_033076.2:g.14517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.377C>T
ENST00000682365.1:n.1568C>T
ENST00000684251.1:n.77C>T
ENST00000684503.1:n.398C>T
ENST00000684692.1:c.233C>T	ENSP00000506792.1:p.Ala78Val
ENST00000168216.11:c.233C>T MANE Select	ENSP00000168216.6:p.Ala78Val
ENST00000168216.10:c.233C>T	ENSP00000168216.6:p.Ala78Val
ENST00000375298.4:c.233C>T	ENSP00000364447.4:p.Ala78Val
ENST00000375304.9:c.233C>T	ENSP00000364453.5:p.Ala78Val
ENST00000495986.1:n.365C>T
NM_001037811.2:c.233C>T , LRG_450t2:c.233C>T	NP_001032900.1:p.Ala78Val
NM_004493.2:c.233C>T , LRG_450t1:c.233C>T	NP_004484.1:p.Ala78Val
NM_004493.3:c.233C>T MANE Select	NP_004484.1:p.Ala78Val