Canonical Allele Identifier: CA413152845

Gene: HSD17B10

Linked Data

• MyVariant Identifiers: chrX:g.53459242T>G (hg19) ; chrX:g.53432294T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432294T>G , CM000685.2:g.53432294T>G	GRCh38
NC_000023.10:g.53459242T>G , CM000685.1:g.53459242T>G	GRCh37
NC_000023.9:g.53475967T>G	NCBI36
NG_008153.1:g.7082A>C , LRG_450:g.7082A>C
NG_033076.2:g.14440T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.454A>C
ENST00000682365.1:n.1645A>C
ENST00000684251.1:n.154A>C
ENST00000684503.1:n.475A>C
ENST00000684692.1:c.310A>C	ENSP00000506792.1:p.Lys104Gln
ENST00000168216.11:c.310A>C MANE Select	ENSP00000168216.6:p.Lys104Gln
ENST00000168216.10:c.310A>C	ENSP00000168216.6:p.Lys104Gln
ENST00000375298.4:c.310A>C	ENSP00000364447.4:p.Lys104Gln
ENST00000375304.9:c.310A>C	ENSP00000364453.5:p.Lys104Gln
ENST00000477706.1:n.29A>C
ENST00000495986.1:n.442A>C
NM_001037811.2:c.310A>C , LRG_450t2:c.310A>C	NP_001032900.1:p.Lys104Gln
NM_004493.2:c.310A>C , LRG_450t1:c.310A>C	NP_004484.1:p.Lys104Gln
NM_004493.3:c.310A>C MANE Select	NP_004484.1:p.Lys104Gln