Canonical Allele Identifier: CA125859878
Gene: HSD17B4 HGNC NCBI

Linked Data

dbSNP Id: rs113689633

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119531363A>G , CM000667.2:g.119531363A>G GRCh38
NC_000005.9:g.118867058A>G , CM000667.1:g.118867058A>G GRCh37
NC_000005.8:g.118894957A>G NCBI36
NG_008182.1:g.83911A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.1883A>G ENSP00000426272.2:p.Glu628Gly
ENST00000518349.6:c.1196A>G ENSP00000507185.1:p.Glu399Gly
ENST00000682445.1:c.*1833A>G ENSP00000508061.1:n.*1833A>G
ENST00000682531.1:n.3844A>G
ENST00000682626.1:c.*1458A>G ENSP00000507857.1:n.*1458A>G
ENST00000682996.1:c.1880A>G ENSP00000507792.1:p.Glu627Gly
ENST00000683265.1:n.3738A>G
ENST00000683335.1:n.3354A>G
ENST00000683371.1:c.*2082A>G ENSP00000508376.1:n.*2082A>G
ENST00000683372.1:n.3962A>G
ENST00000683390.1:n.3642A>G
ENST00000683476.1:n.794A>G
ENST00000683549.1:n.3566A>G
ENST00000683936.1:c.*3530A>G ENSP00000507721.1:n.*3530A>G
ENST00000683974.1:n.3681A>G
ENST00000683996.1:c.*1162A>G ENSP00000507060.1:n.*1162A>G
ENST00000684131.1:n.3484A>G
ENST00000684160.1:c.*1642A>G ENSP00000507821.1:n.*1642A>G
ENST00000684214.1:c.1854+1383A>G ENSP00000508071.1:n.1854+1383A>G
ENST00000414835.7:c.2027A>G ENSP00000411960.3:p.Glu676Gly
ENST00000510025.7:c.1952A>G MANE Select ENSP00000424940.3:p.Glu651Gly
ENST00000643250.1:c.*1824A>G ENSP00000494737.1:n.*1824A>G
ENST00000644146.1:c.*3223A>G ENSP00000494808.1:n.*3223A>G
ENST00000645099.1:c.1511A>G ENSP00000496091.1:p.Glu504Gly
ENST00000645702.1:c.*1355A>G ENSP00000496432.1:n.*1355A>G
ENST00000645832.1:c.*1837A>G ENSP00000494316.1:n.*1837A>G
ENST00000646058.1:c.1952A>G ENSP00000493579.1:p.Glu651Gly
ENST00000646355.1:c.*1958A>G ENSP00000493801.1:n.*1958A>G
ENST00000646554.1:c.*1930A>G ENSP00000494542.1:n.*1930A>G
ENST00000647335.1:c.*1919A>G ENSP00000495180.1:n.*1919A>G
ENST00000647342.1:c.*1883A>G ENSP00000494992.1:n.*1883A>G
ENST00000256216.10:c.1952A>G ENSP00000256216.6:p.Glu651Gly
ENST00000414835.6:c.1532A>G ENSP00000411960.2:p.Glu511Gly
ENST00000442060.7:c.*507A>G ENSP00000390208.3:n.*507A>G
ENST00000504811.5:c.2027A>G ENSP00000420914.1:p.Glu676Gly
ENST00000509514.5:c.1166A>G ENSP00000426272.1:p.Glu389Gly
ENST00000509606.1:n.247A>G
ENST00000509951.5:n.309+1383A>G
ENST00000510025.5:c.1880A>G ENSP00000424940.1:p.Glu627Gly
ENST00000513628.5:c.1541A>G ENSP00000425993.1:p.Glu514Gly
ENST00000515235.6:n.3705A>G
ENST00000515320.5:c.1898A>G ENSP00000424613.1:p.Glu633Gly
ENST00000522415.5:n.619A>G
NM_000414.3:c.1952A>G NP_000405.1:p.Glu651Gly
NM_001199291.2:c.2027A>G NP_001186220.1:p.Glu676Gly
NM_001199292.1:c.1898A>G NP_001186221.1:p.Glu633Gly
NM_001292027.1:c.1880A>G NP_001278956.1:p.Glu627Gly
NM_001292028.1:c.1532A>G NP_001278957.1:p.Glu511Gly
NM_000414.4:c.1952A>G MANE Select NP_000405.1:p.Glu651Gly
NM_001199291.3:c.2027A>G NP_001186220.1:p.Glu676Gly
NM_001199292.2:c.1898A>G NP_001186221.1:p.Glu633Gly
NM_001292027.2:c.1880A>G NP_001278956.1:p.Glu627Gly
NM_001292028.2:c.1532A>G NP_001278957.1:p.Glu511Gly
NM_001374497.1:c.1943A>G NP_001361426.1:p.Glu648Gly
NM_001374498.1:c.1880A>G NP_001361427.1:p.Glu627Gly
NM_001374499.1:c.1625A>G NP_001361428.1:p.Glu542Gly
NM_001374500.1:c.1511A>G NP_001361429.1:p.Glu504Gly
NM_001374501.1:c.1541A>G NP_001361430.1:p.Glu514Gly
NM_001374502.1:c.1541A>G NP_001361431.1:p.Glu514Gly
NM_001374503.1:c.1541A>G NP_001361432.1:p.Glu514Gly
NR_164653.1:n.2049A>G
NR_164654.1:n.2317A>G