Canonical Allele Identifier: CA413153288

Gene: HSD17B10

Linked Data

• MyVariant Identifiers: chrX:g.53459320C>T (hg19) ; chrX:g.53432372C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432372C>T , CM000685.2:g.53432372C>T	GRCh38
NC_000023.10:g.53459320C>T , CM000685.1:g.53459320C>T	GRCh37
NC_000023.9:g.53476045C>T	NCBI36
NG_008153.1:g.7004G>A , LRG_450:g.7004G>A
NG_033076.2:g.14518C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.376G>A
ENST00000682365.1:n.1567G>A
ENST00000684251.1:n.76G>A
ENST00000684503.1:n.397G>A
ENST00000684692.1:c.232G>A	ENSP00000506792.1:p.Ala78Thr
ENST00000168216.11:c.232G>A MANE Select	ENSP00000168216.6:p.Ala78Thr
ENST00000168216.10:c.232G>A	ENSP00000168216.6:p.Ala78Thr
ENST00000375298.4:c.232G>A	ENSP00000364447.4:p.Ala78Thr
ENST00000375304.9:c.232G>A	ENSP00000364453.5:p.Ala78Thr
ENST00000495986.1:n.364G>A
NM_001037811.2:c.232G>A , LRG_450t2:c.232G>A	NP_001032900.1:p.Ala78Thr
NM_004493.2:c.232G>A , LRG_450t1:c.232G>A	NP_004484.1:p.Ala78Thr
NM_004493.3:c.232G>A MANE Select	NP_004484.1:p.Ala78Thr