Canonical Allele Identifier: CA10421023

Gene: HSD17B10

Linked Data

• dbSNP Id: rs782818492
• ExAC: X:53459301 C / T
• gnomAD v2: X-53459301-C-T
• gnomAD v3: X-53432353-C-T
• gnomAD v4: X-53432353-C-T
• MyVariant Identifiers: chrX:g.53459301C>T (hg19) ; chrX:g.53432353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432353C>T , CM000685.2:g.53432353C>T	GRCh38
NC_000023.10:g.53459301C>T , CM000685.1:g.53459301C>T	GRCh37
NC_000023.9:g.53476026C>T	NCBI36
NG_008153.1:g.7023G>A , LRG_450:g.7023G>A
NG_033076.2:g.14499C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.395G>A
ENST00000682365.1:n.1586G>A
ENST00000684251.1:n.95G>A
ENST00000684503.1:n.416G>A
ENST00000684692.1:c.251G>A	ENSP00000506792.1:p.Arg84His
ENST00000168216.11:c.251G>A MANE Select	ENSP00000168216.6:p.Arg84His
ENST00000168216.10:c.251G>A	ENSP00000168216.6:p.Arg84His
ENST00000375298.4:c.251G>A	ENSP00000364447.4:p.Arg84His
ENST00000375304.9:c.251G>A	ENSP00000364453.5:p.Arg84His
ENST00000495986.1:n.383G>A
NM_001037811.2:c.251G>A , LRG_450t2:c.251G>A	NP_001032900.1:p.Arg84His
NM_004493.2:c.251G>A , LRG_450t1:c.251G>A	NP_004484.1:p.Arg84His
NM_004493.3:c.251G>A MANE Select	NP_004484.1:p.Arg84His