Canonical Allele Identifier: CA446041381
Gene: HSD17B4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.118814544A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119478849A>G , CM000667.2:g.119478849A>G GRCh38
NC_000005.9:g.118814544A>G , CM000667.1:g.118814544A>G GRCh37
NC_000005.8:g.118842443A>G NCBI36
NG_008182.1:g.31397A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.450A>G ENSP00000426272.2:p.Ser150=
ENST00000518349.6:c.113-17694A>G ENSP00000507185.1:n.113-17694A>G
ENST00000682445.1:c.*331A>G ENSP00000508061.1:n.*331A>G
ENST00000682531.1:n.551A>G
ENST00000682626.1:c.478A>G ENSP00000507857.1:p.Ile160Val
ENST00000682996.1:c.450A>G ENSP00000507792.1:p.Ser150=
ENST00000683265.1:n.543A>G
ENST00000683371.1:c.*580A>G ENSP00000508376.1:n.*580A>G
ENST00000683390.1:n.2140A>G
ENST00000683549.1:n.371A>G
ENST00000683936.1:c.*335A>G ENSP00000507721.1:n.*335A>G
ENST00000683974.1:n.532A>G
ENST00000683996.1:c.39A>G ENSP00000507060.1:p.Ser13=
ENST00000684131.1:n.289A>G
ENST00000684160.1:c.*140A>G ENSP00000507821.1:n.*140A>G
ENST00000684214.1:c.450A>G ENSP00000508071.1:p.Ser150=
ENST00000414835.7:c.525A>G ENSP00000411960.3:p.Ser175=
ENST00000510025.7:c.450A>G MANE Select ENSP00000424940.3:p.Ser150=
ENST00000643250.1:c.*322A>G ENSP00000494737.1:n.*322A>G
ENST00000644146.1:c.*28A>G ENSP00000494808.1:n.*28A>G
ENST00000645099.1:c.9A>G ENSP00000496091.1:p.Ser3=
ENST00000645702.1:c.39A>G ENSP00000496432.1:p.Ser13=
ENST00000645832.1:c.*335A>G ENSP00000494316.1:n.*335A>G
ENST00000646058.1:c.450A>G ENSP00000493579.1:p.Ser150=
ENST00000646355.1:c.*456A>G ENSP00000493801.1:n.*456A>G
ENST00000646554.1:c.*428A>G ENSP00000494542.1:n.*428A>G
ENST00000646590.1:c.441A>G ENSP00000494892.1:p.Ser147=
ENST00000647335.1:c.*417A>G ENSP00000495180.1:n.*417A>G
ENST00000647342.1:c.*381A>G ENSP00000494992.1:n.*381A>G
ENST00000256216.10:c.450A>G ENSP00000256216.6:p.Ser150=
ENST00000414835.6:c.30A>G ENSP00000411960.2:p.Ser10=
ENST00000442060.7:c.450A>G ENSP00000390208.3:p.Ser150=
ENST00000503168.5:n.439A>G
ENST00000504811.5:c.525A>G ENSP00000420914.1:p.Ser175=
ENST00000505181.5:n.153A>G
ENST00000508788.5:n.352A>G
ENST00000509514.5:c.-435A>G ENSP00000426272.1:n.-435A>G
ENST00000510025.5:c.378A>G ENSP00000424940.1:p.Ser126=
ENST00000512644.1:n.18A>G
ENST00000512841.5:n.498A>G
ENST00000513628.5:c.39A>G ENSP00000425993.1:p.Ser13=
ENST00000515235.6:n.510A>G
ENST00000515320.5:c.396A>G ENSP00000424613.1:p.Ser132=
NM_000414.3:c.450A>G NP_000405.1:p.Ser150=
NM_001199291.2:c.525A>G NP_001186220.1:p.Ser175=
NM_001199292.1:c.396A>G NP_001186221.1:p.Ser132=
NM_001292027.1:c.378A>G NP_001278956.1:p.Ser126=
NM_001292028.1:c.30A>G NP_001278957.1:p.Ser10=
NM_000414.4:c.450A>G MANE Select NP_000405.1:p.Ser150=
NM_001199291.3:c.525A>G NP_001186220.1:p.Ser175=
NM_001199292.2:c.396A>G NP_001186221.1:p.Ser132=
NM_001292027.2:c.378A>G NP_001278956.1:p.Ser126=
NM_001292028.2:c.30A>G NP_001278957.1:p.Ser10=
NM_001374497.1:c.441A>G NP_001361426.1:p.Ser147=
NM_001374498.1:c.450A>G NP_001361427.1:p.Ser150=
NM_001374499.1:c.123A>G NP_001361428.1:p.Ser41=
NM_001374500.1:c.9A>G NP_001361429.1:p.Ser3=
NM_001374501.1:c.39A>G NP_001361430.1:p.Ser13=
NM_001374502.1:c.39A>G NP_001361431.1:p.Ser13=
NM_001374503.1:c.39A>G NP_001361432.1:p.Ser13=
NR_164653.1:n.529A>G
NR_164654.1:n.717A>G