Canonical Allele Identifier: CA1577049357
Community Standard Title: NM_000414.4(HSD17B4):c.2060C= (p.Thr687=)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119536489C= , CM000667.2:g.119536489C= GRCh38
NC_000005.9:g.118872184C= , CM000667.1:g.118872184C= GRCh37
NC_000005.8:g.118900083C= NCBI36
NG_008182.1:g.89037C=

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.2060C= MANE Select NP_000405.1:p.Thr687=
ENST00000510025.7:c.2060C= MANE Select ENSP00000424940.3:p.Thr687=
NM_000414.3:c.2060C= NP_000405.1:p.Thr687=
NM_001199291.2:c.2135C= NP_001186220.1:p.Thr712=
NM_001199291.3:c.2135C= NP_001186220.1:p.Thr712=
NM_001199292.1:c.2006C= NP_001186221.1:p.Thr669=
NM_001199292.2:c.2006C= NP_001186221.1:p.Thr669=
NM_001292027.1:c.1988C= NP_001278956.1:p.Thr663=
NM_001292027.2:c.1988C= NP_001278956.1:p.Thr663=
NM_001292028.1:c.1640C= NP_001278957.1:p.Thr547=
NM_001292028.2:c.1640C= NP_001278957.1:p.Thr547=
NM_001374497.1:c.2051C= NP_001361426.1:p.Thr684=
NM_001374498.1:c.1988C= NP_001361427.1:p.Thr663=
NM_001374499.1:c.1733C= NP_001361428.1:p.Thr578=
NM_001374500.1:c.1619C= NP_001361429.1:p.Thr540=
NM_001374501.1:c.1649C= NP_001361430.1:p.Thr550=
NM_001374502.1:c.1649C= NP_001361431.1:p.Thr550=
NM_001374503.1:c.1649C= NP_001361432.1:p.Thr550=
NR_164653.1:n.2157C=
NR_164654.1:n.2425C=
ENST00000256216.10:c.2060C= ENSP00000256216.6:p.Thr687=
ENST00000414835.6:c.1640C= ENSP00000411960.2:p.Thr547=
ENST00000414835.7:c.2135C= ENSP00000411960.3:p.Thr712=
ENST00000442060.7:c.*615C= ENSP00000390208.3:n.*615C=
ENST00000503310.1:n.720C=
ENST00000504811.5:c.2135C= ENSP00000420914.1:p.Thr712=
ENST00000509514.5:c.1274C= ENSP00000426272.1:p.Thr425=
ENST00000509514.6:c.1991C= ENSP00000426272.2:p.Thr664=
ENST00000509606.1:n.355C=
ENST00000509951.5:n.310-5416C=
ENST00000510025.5:c.1988C= ENSP00000424940.1:p.Thr663=
ENST00000513628.5:c.1649C= ENSP00000425993.1:p.Thr550=
ENST00000515235.6:n.3813C=
ENST00000515320.5:c.2006C= ENSP00000424613.1:p.Thr669=
ENST00000518349.6:c.1304C= ENSP00000507185.1:p.Thr435=
ENST00000522415.5:n.727C=
ENST00000643250.1:c.*1932C= ENSP00000494737.1:n.*1932C=
ENST00000643897.1:c.52C=
ENST00000644146.1:c.*3331C= ENSP00000494808.1:n.*3331C=
ENST00000645099.1:c.1619C= ENSP00000496091.1:p.Thr540=
ENST00000645702.1:c.*1463C= ENSP00000496432.1:n.*1463C=
ENST00000645832.1:c.*1945C= ENSP00000494316.1:n.*1945C=
ENST00000646058.1:c.2060C= ENSP00000493579.1:p.Thr687=
ENST00000646355.1:c.*2066C= ENSP00000493801.1:n.*2066C=
ENST00000646554.1:c.*2038C= ENSP00000494542.1:n.*2038C=
ENST00000647335.1:c.*2027C= ENSP00000495180.1:n.*2027C=
ENST00000647342.1:c.*1991C= ENSP00000494992.1:n.*1991C=
ENST00000682445.1:c.*1941C= ENSP00000508061.1:n.*1941C=
ENST00000682531.1:n.3952C=
ENST00000682626.1:c.*1566C= ENSP00000507857.1:n.*1566C=
ENST00000682996.1:c.1988C= ENSP00000507792.1:p.Thr663=
ENST00000683265.1:n.3846C=
ENST00000683335.1:n.3462C=
ENST00000683371.1:c.*2190C= ENSP00000508376.1:n.*2190C=
ENST00000683372.1:n.4070C=
ENST00000683390.1:n.8768C=
ENST00000683476.1:n.902C=
ENST00000683549.1:n.3674C=
ENST00000683936.1:c.*3638C= ENSP00000507721.1:n.*3638C=
ENST00000683974.1:n.3789C=
ENST00000683996.1:c.*1270C= ENSP00000507060.1:n.*1270C=
ENST00000684131.1:n.3592C=
ENST00000684160.1:c.*1750C= ENSP00000507821.1:n.*1750C=
ENST00000684214.1:c.*55C= ENSP00000508071.1:n.*55C=