Canonical Allele Identifier: CA413153116

Gene: HSD17B10

Linked Data

• gnomAD v4: X-53432341-G-A
• MyVariant Identifiers: chrX:g.53459289G>A (hg19) ; chrX:g.53432341G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432341G>A , CM000685.2:g.53432341G>A	GRCh38
NC_000023.10:g.53459289G>A , CM000685.1:g.53459289G>A	GRCh37
NC_000023.9:g.53476014G>A	NCBI36
NG_008153.1:g.7035C>T , LRG_450:g.7035C>T
NG_033076.2:g.14487G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.407C>T
ENST00000682365.1:n.1598C>T
ENST00000684251.1:n.107C>T
ENST00000684503.1:n.428C>T
ENST00000684692.1:c.263C>T	ENSP00000506792.1:p.Ala88Val
ENST00000168216.11:c.263C>T MANE Select	ENSP00000168216.6:p.Ala88Val
ENST00000168216.10:c.263C>T	ENSP00000168216.6:p.Ala88Val
ENST00000375298.4:c.263C>T	ENSP00000364447.4:p.Ala88Val
ENST00000375304.9:c.263C>T	ENSP00000364453.5:p.Ala88Val
ENST00000495986.1:n.395C>T
NM_001037811.2:c.263C>T , LRG_450t2:c.263C>T	NP_001032900.1:p.Ala88Val
NM_004493.2:c.263C>T , LRG_450t1:c.263C>T	NP_004484.1:p.Ala88Val
NM_004493.3:c.263C>T MANE Select	NP_004484.1:p.Ala88Val