Canonical Allele Identifier: CA360871462
Gene: HSD17B4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119531399A>C , CM000667.2:g.119531399A>C GRCh38
NC_000005.9:g.118867094A>C , CM000667.1:g.118867094A>C GRCh37
NC_000005.8:g.118894993A>C NCBI36
NG_008182.1:g.83947A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.1919A>C ENSP00000426272.2:p.Lys640Thr
ENST00000518349.6:c.1232A>C ENSP00000507185.1:p.Lys411Thr
ENST00000682445.1:c.*1869A>C ENSP00000508061.1:n.*1869A>C
ENST00000682531.1:n.3880A>C
ENST00000682626.1:c.*1494A>C ENSP00000507857.1:n.*1494A>C
ENST00000682996.1:c.1916A>C ENSP00000507792.1:p.Lys639Thr
ENST00000683265.1:n.3774A>C
ENST00000683335.1:n.3390A>C
ENST00000683371.1:c.*2118A>C ENSP00000508376.1:n.*2118A>C
ENST00000683372.1:n.3998A>C
ENST00000683390.1:n.3678A>C
ENST00000683476.1:n.830A>C
ENST00000683549.1:n.3602A>C
ENST00000683936.1:c.*3566A>C ENSP00000507721.1:n.*3566A>C
ENST00000683974.1:n.3717A>C
ENST00000683996.1:c.*1198A>C ENSP00000507060.1:n.*1198A>C
ENST00000684131.1:n.3520A>C
ENST00000684160.1:c.*1678A>C ENSP00000507821.1:n.*1678A>C
ENST00000684214.1:c.1854+1419A>C ENSP00000508071.1:n.1854+1419A>C
ENST00000414835.7:c.2063A>C ENSP00000411960.3:p.Lys688Thr
ENST00000510025.7:c.1988A>C MANE Select ENSP00000424940.3:p.Lys663Thr
ENST00000643250.1:c.*1860A>C ENSP00000494737.1:n.*1860A>C
ENST00000644146.1:c.*3259A>C ENSP00000494808.1:n.*3259A>C
ENST00000645099.1:c.1547A>C ENSP00000496091.1:p.Lys516Thr
ENST00000645702.1:c.*1391A>C ENSP00000496432.1:n.*1391A>C
ENST00000645832.1:c.*1873A>C ENSP00000494316.1:n.*1873A>C
ENST00000646058.1:c.1988A>C ENSP00000493579.1:p.Lys663Thr
ENST00000646355.1:c.*1994A>C ENSP00000493801.1:n.*1994A>C
ENST00000646554.1:c.*1966A>C ENSP00000494542.1:n.*1966A>C
ENST00000647335.1:c.*1955A>C ENSP00000495180.1:n.*1955A>C
ENST00000647342.1:c.*1919A>C ENSP00000494992.1:n.*1919A>C
ENST00000256216.10:c.1988A>C ENSP00000256216.6:p.Lys663Thr
ENST00000414835.6:c.1568A>C ENSP00000411960.2:p.Lys523Thr
ENST00000442060.7:c.*543A>C ENSP00000390208.3:n.*543A>C
ENST00000504811.5:c.2063A>C ENSP00000420914.1:p.Lys688Thr
ENST00000509514.5:c.1202A>C ENSP00000426272.1:p.Lys401Thr
ENST00000509606.1:n.283A>C
ENST00000509951.5:n.309+1419A>C
ENST00000510025.5:c.1916A>C ENSP00000424940.1:p.Lys639Thr
ENST00000513628.5:c.1577A>C ENSP00000425993.1:p.Lys526Thr
ENST00000515235.6:n.3741A>C
ENST00000515320.5:c.1934A>C ENSP00000424613.1:p.Lys645Thr
ENST00000522415.5:n.655A>C
NM_000414.3:c.1988A>C NP_000405.1:p.Lys663Thr
NM_001199291.2:c.2063A>C NP_001186220.1:p.Lys688Thr
NM_001199292.1:c.1934A>C NP_001186221.1:p.Lys645Thr
NM_001292027.1:c.1916A>C NP_001278956.1:p.Lys639Thr
NM_001292028.1:c.1568A>C NP_001278957.1:p.Lys523Thr
NM_000414.4:c.1988A>C MANE Select NP_000405.1:p.Lys663Thr
NM_001199291.3:c.2063A>C NP_001186220.1:p.Lys688Thr
NM_001199292.2:c.1934A>C NP_001186221.1:p.Lys645Thr
NM_001292027.2:c.1916A>C NP_001278956.1:p.Lys639Thr
NM_001292028.2:c.1568A>C NP_001278957.1:p.Lys523Thr
NM_001374497.1:c.1979A>C NP_001361426.1:p.Lys660Thr
NM_001374498.1:c.1916A>C NP_001361427.1:p.Lys639Thr
NM_001374499.1:c.1661A>C NP_001361428.1:p.Lys554Thr
NM_001374500.1:c.1547A>C NP_001361429.1:p.Lys516Thr
NM_001374501.1:c.1577A>C NP_001361430.1:p.Lys526Thr
NM_001374502.1:c.1577A>C NP_001361431.1:p.Lys526Thr
NM_001374503.1:c.1577A>C NP_001361432.1:p.Lys526Thr
NR_164653.1:n.2085A>C
NR_164654.1:n.2353A>C