Canonical Allele Identifier: CA413153469

Gene: HSD17B10

Linked Data

• MyVariant Identifiers: chrX:g.53459347T>G (hg19) ; chrX:g.53432399T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432399T>G , CM000685.2:g.53432399T>G	GRCh38
NC_000023.10:g.53459347T>G , CM000685.1:g.53459347T>G	GRCh37
NC_000023.9:g.53476072T>G	NCBI36
NG_008153.1:g.6977A>C , LRG_450:g.6977A>C
NG_033076.2:g.14545T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.349A>C
ENST00000682365.1:n.1540A>C
ENST00000684251.1:n.49A>C
ENST00000684503.1:n.370A>C
ENST00000684692.1:c.205A>C	ENSP00000506792.1:p.Lys69Gln
ENST00000168216.11:c.205A>C MANE Select	ENSP00000168216.6:p.Lys69Gln
ENST00000168216.10:c.205A>C	ENSP00000168216.6:p.Lys69Gln
ENST00000375298.4:c.205A>C	ENSP00000364447.4:p.Lys69Gln
ENST00000375304.9:c.205A>C	ENSP00000364453.5:p.Lys69Gln
ENST00000495986.1:n.337A>C
NM_001037811.2:c.205A>C , LRG_450t2:c.205A>C	NP_001032900.1:p.Lys69Gln
NM_004493.2:c.205A>C , LRG_450t1:c.205A>C	NP_004484.1:p.Lys69Gln
NM_004493.3:c.205A>C MANE Select	NP_004484.1:p.Lys69Gln