Canonical Allele Identifier: CA360871221
Gene: HSD17B4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119531348T>A , CM000667.2:g.119531348T>A GRCh38
NC_000005.9:g.118867043T>A , CM000667.1:g.118867043T>A GRCh37
NC_000005.8:g.118894942T>A NCBI36
NG_008182.1:g.83896T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.1868T>A ENSP00000426272.2:p.Val623Glu
ENST00000518349.6:c.1181T>A ENSP00000507185.1:p.Val394Glu
ENST00000682445.1:c.*1818T>A ENSP00000508061.1:n.*1818T>A
ENST00000682531.1:n.3829T>A
ENST00000682626.1:c.*1443T>A ENSP00000507857.1:n.*1443T>A
ENST00000682996.1:c.1865T>A ENSP00000507792.1:p.Val622Glu
ENST00000683265.1:n.3723T>A
ENST00000683335.1:n.3339T>A
ENST00000683371.1:c.*2067T>A ENSP00000508376.1:n.*2067T>A
ENST00000683372.1:n.3947T>A
ENST00000683390.1:n.3627T>A
ENST00000683476.1:n.779T>A
ENST00000683549.1:n.3551T>A
ENST00000683936.1:c.*3515T>A ENSP00000507721.1:n.*3515T>A
ENST00000683974.1:n.3666T>A
ENST00000683996.1:c.*1147T>A ENSP00000507060.1:n.*1147T>A
ENST00000684131.1:n.3469T>A
ENST00000684160.1:c.*1627T>A ENSP00000507821.1:n.*1627T>A
ENST00000684214.1:c.1854+1368T>A ENSP00000508071.1:n.1854+1368T>A
ENST00000414835.7:c.2012T>A ENSP00000411960.3:p.Val671Glu
ENST00000510025.7:c.1937T>A MANE Select ENSP00000424940.3:p.Val646Glu
ENST00000643250.1:c.*1809T>A ENSP00000494737.1:n.*1809T>A
ENST00000644146.1:c.*3208T>A ENSP00000494808.1:n.*3208T>A
ENST00000645099.1:c.1496T>A ENSP00000496091.1:p.Val499Glu
ENST00000645702.1:c.*1340T>A ENSP00000496432.1:n.*1340T>A
ENST00000645832.1:c.*1822T>A ENSP00000494316.1:n.*1822T>A
ENST00000646058.1:c.1937T>A ENSP00000493579.1:p.Val646Glu
ENST00000646355.1:c.*1943T>A ENSP00000493801.1:n.*1943T>A
ENST00000646554.1:c.*1915T>A ENSP00000494542.1:n.*1915T>A
ENST00000647335.1:c.*1904T>A ENSP00000495180.1:n.*1904T>A
ENST00000647342.1:c.*1868T>A ENSP00000494992.1:n.*1868T>A
ENST00000256216.10:c.1937T>A ENSP00000256216.6:p.Val646Glu
ENST00000414835.6:c.1517T>A ENSP00000411960.2:p.Val506Glu
ENST00000442060.7:c.*492T>A ENSP00000390208.3:n.*492T>A
ENST00000504811.5:c.2012T>A ENSP00000420914.1:p.Val671Glu
ENST00000509514.5:c.1151T>A ENSP00000426272.1:p.Val384Glu
ENST00000509606.1:n.232T>A
ENST00000509951.5:n.309+1368T>A
ENST00000510025.5:c.1865T>A ENSP00000424940.1:p.Val622Glu
ENST00000513628.5:c.1526T>A ENSP00000425993.1:p.Val509Glu
ENST00000515235.6:n.3690T>A
ENST00000515320.5:c.1883T>A ENSP00000424613.1:p.Val628Glu
ENST00000522415.5:n.604T>A
NM_000414.3:c.1937T>A NP_000405.1:p.Val646Glu
NM_001199291.2:c.2012T>A NP_001186220.1:p.Val671Glu
NM_001199292.1:c.1883T>A NP_001186221.1:p.Val628Glu
NM_001292027.1:c.1865T>A NP_001278956.1:p.Val622Glu
NM_001292028.1:c.1517T>A NP_001278957.1:p.Val506Glu
NM_000414.4:c.1937T>A MANE Select NP_000405.1:p.Val646Glu
NM_001199291.3:c.2012T>A NP_001186220.1:p.Val671Glu
NM_001199292.2:c.1883T>A NP_001186221.1:p.Val628Glu
NM_001292027.2:c.1865T>A NP_001278956.1:p.Val622Glu
NM_001292028.2:c.1517T>A NP_001278957.1:p.Val506Glu
NM_001374497.1:c.1928T>A NP_001361426.1:p.Val643Glu
NM_001374498.1:c.1865T>A NP_001361427.1:p.Val622Glu
NM_001374499.1:c.1610T>A NP_001361428.1:p.Val537Glu
NM_001374500.1:c.1496T>A NP_001361429.1:p.Val499Glu
NM_001374501.1:c.1526T>A NP_001361430.1:p.Val509Glu
NM_001374502.1:c.1526T>A NP_001361431.1:p.Val509Glu
NM_001374503.1:c.1526T>A NP_001361432.1:p.Val509Glu
NR_164653.1:n.2034T>A
NR_164654.1:n.2302T>A