Canonical Allele Identifier: CA360866083
Gene: HSD17B4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119478847T>G , CM000667.2:g.119478847T>G GRCh38
NC_000005.9:g.118814542T>G , CM000667.1:g.118814542T>G GRCh37
NC_000005.8:g.118842441T>G NCBI36
NG_008182.1:g.31395T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.448T>G ENSP00000426272.2:p.Ser150Ala
ENST00000518349.6:c.113-17696T>G ENSP00000507185.1:n.113-17696T>G
ENST00000682445.1:c.*329T>G ENSP00000508061.1:n.*329T>G
ENST00000682531.1:n.549T>G
ENST00000682626.1:c.476T>G ENSP00000507857.1:p.Phe159Cys
ENST00000682996.1:c.448T>G ENSP00000507792.1:p.Ser150Ala
ENST00000683265.1:n.541T>G
ENST00000683371.1:c.*578T>G ENSP00000508376.1:n.*578T>G
ENST00000683390.1:n.2138T>G
ENST00000683549.1:n.369T>G
ENST00000683936.1:c.*333T>G ENSP00000507721.1:n.*333T>G
ENST00000683974.1:n.530T>G
ENST00000683996.1:c.37T>G ENSP00000507060.1:p.Ser13Ala
ENST00000684131.1:n.287T>G
ENST00000684160.1:c.*138T>G ENSP00000507821.1:n.*138T>G
ENST00000684214.1:c.448T>G ENSP00000508071.1:p.Ser150Ala
ENST00000414835.7:c.523T>G ENSP00000411960.3:p.Ser175Ala
ENST00000510025.7:c.448T>G MANE Select ENSP00000424940.3:p.Ser150Ala
ENST00000643250.1:c.*320T>G ENSP00000494737.1:n.*320T>G
ENST00000644146.1:c.*26T>G ENSP00000494808.1:n.*26T>G
ENST00000645099.1:c.7T>G ENSP00000496091.1:p.Ser3Ala
ENST00000645702.1:c.37T>G ENSP00000496432.1:p.Ser13Ala
ENST00000645832.1:c.*333T>G ENSP00000494316.1:n.*333T>G
ENST00000646058.1:c.448T>G ENSP00000493579.1:p.Ser150Ala
ENST00000646355.1:c.*454T>G ENSP00000493801.1:n.*454T>G
ENST00000646554.1:c.*426T>G ENSP00000494542.1:n.*426T>G
ENST00000646590.1:c.439T>G ENSP00000494892.1:p.Ser147Ala
ENST00000647335.1:c.*415T>G ENSP00000495180.1:n.*415T>G
ENST00000647342.1:c.*379T>G ENSP00000494992.1:n.*379T>G
ENST00000256216.10:c.448T>G ENSP00000256216.6:p.Ser150Ala
ENST00000414835.6:c.28T>G ENSP00000411960.2:p.Ser10Ala
ENST00000442060.7:c.448T>G ENSP00000390208.3:p.Ser150Ala
ENST00000503168.5:n.437T>G
ENST00000504811.5:c.523T>G ENSP00000420914.1:p.Ser175Ala
ENST00000505181.5:n.151T>G
ENST00000508788.5:n.350T>G
ENST00000509514.5:c.-437T>G ENSP00000426272.1:n.-437T>G
ENST00000510025.5:c.376T>G ENSP00000424940.1:p.Ser126Ala
ENST00000512644.1:n.16T>G
ENST00000512841.5:n.496T>G
ENST00000513628.5:c.37T>G ENSP00000425993.1:p.Ser13Ala
ENST00000515235.6:n.508T>G
ENST00000515320.5:c.394T>G ENSP00000424613.1:p.Ser132Ala
NM_000414.3:c.448T>G NP_000405.1:p.Ser150Ala
NM_001199291.2:c.523T>G NP_001186220.1:p.Ser175Ala
NM_001199292.1:c.394T>G NP_001186221.1:p.Ser132Ala
NM_001292027.1:c.376T>G NP_001278956.1:p.Ser126Ala
NM_001292028.1:c.28T>G NP_001278957.1:p.Ser10Ala
NM_000414.4:c.448T>G MANE Select NP_000405.1:p.Ser150Ala
NM_001199291.3:c.523T>G NP_001186220.1:p.Ser175Ala
NM_001199292.2:c.394T>G NP_001186221.1:p.Ser132Ala
NM_001292027.2:c.376T>G NP_001278956.1:p.Ser126Ala
NM_001292028.2:c.28T>G NP_001278957.1:p.Ser10Ala
NM_001374497.1:c.439T>G NP_001361426.1:p.Ser147Ala
NM_001374498.1:c.448T>G NP_001361427.1:p.Ser150Ala
NM_001374499.1:c.121T>G NP_001361428.1:p.Ser41Ala
NM_001374500.1:c.7T>G NP_001361429.1:p.Ser3Ala
NM_001374501.1:c.37T>G NP_001361430.1:p.Ser13Ala
NM_001374502.1:c.37T>G NP_001361431.1:p.Ser13Ala
NM_001374503.1:c.37T>G NP_001361432.1:p.Ser13Ala
NR_164653.1:n.527T>G
NR_164654.1:n.715T>G