Canonical Allele Identifier: CA360871425
Gene: HSD17B4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119531390T>A , CM000667.2:g.119531390T>A GRCh38
NC_000005.9:g.118867085T>A , CM000667.1:g.118867085T>A GRCh37
NC_000005.8:g.118894984T>A NCBI36
NG_008182.1:g.83938T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.1910T>A ENSP00000426272.2:p.Ile637Asn
ENST00000518349.6:c.1223T>A ENSP00000507185.1:p.Ile408Asn
ENST00000682445.1:c.*1860T>A ENSP00000508061.1:n.*1860T>A
ENST00000682531.1:n.3871T>A
ENST00000682626.1:c.*1485T>A ENSP00000507857.1:n.*1485T>A
ENST00000682996.1:c.1907T>A ENSP00000507792.1:p.Ile636Asn
ENST00000683265.1:n.3765T>A
ENST00000683335.1:n.3381T>A
ENST00000683371.1:c.*2109T>A ENSP00000508376.1:n.*2109T>A
ENST00000683372.1:n.3989T>A
ENST00000683390.1:n.3669T>A
ENST00000683476.1:n.821T>A
ENST00000683549.1:n.3593T>A
ENST00000683936.1:c.*3557T>A ENSP00000507721.1:n.*3557T>A
ENST00000683974.1:n.3708T>A
ENST00000683996.1:c.*1189T>A ENSP00000507060.1:n.*1189T>A
ENST00000684131.1:n.3511T>A
ENST00000684160.1:c.*1669T>A ENSP00000507821.1:n.*1669T>A
ENST00000684214.1:c.1854+1410T>A ENSP00000508071.1:n.1854+1410T>A
ENST00000414835.7:c.2054T>A ENSP00000411960.3:p.Ile685Asn
ENST00000510025.7:c.1979T>A MANE Select ENSP00000424940.3:p.Ile660Asn
ENST00000643250.1:c.*1851T>A ENSP00000494737.1:n.*1851T>A
ENST00000644146.1:c.*3250T>A ENSP00000494808.1:n.*3250T>A
ENST00000645099.1:c.1538T>A ENSP00000496091.1:p.Ile513Asn
ENST00000645702.1:c.*1382T>A ENSP00000496432.1:n.*1382T>A
ENST00000645832.1:c.*1864T>A ENSP00000494316.1:n.*1864T>A
ENST00000646058.1:c.1979T>A ENSP00000493579.1:p.Ile660Asn
ENST00000646355.1:c.*1985T>A ENSP00000493801.1:n.*1985T>A
ENST00000646554.1:c.*1957T>A ENSP00000494542.1:n.*1957T>A
ENST00000647335.1:c.*1946T>A ENSP00000495180.1:n.*1946T>A
ENST00000647342.1:c.*1910T>A ENSP00000494992.1:n.*1910T>A
ENST00000256216.10:c.1979T>A ENSP00000256216.6:p.Ile660Asn
ENST00000414835.6:c.1559T>A ENSP00000411960.2:p.Ile520Asn
ENST00000442060.7:c.*534T>A ENSP00000390208.3:n.*534T>A
ENST00000504811.5:c.2054T>A ENSP00000420914.1:p.Ile685Asn
ENST00000509514.5:c.1193T>A ENSP00000426272.1:p.Ile398Asn
ENST00000509606.1:n.274T>A
ENST00000509951.5:n.309+1410T>A
ENST00000510025.5:c.1907T>A ENSP00000424940.1:p.Ile636Asn
ENST00000513628.5:c.1568T>A ENSP00000425993.1:p.Ile523Asn
ENST00000515235.6:n.3732T>A
ENST00000515320.5:c.1925T>A ENSP00000424613.1:p.Ile642Asn
ENST00000522415.5:n.646T>A
NM_000414.3:c.1979T>A NP_000405.1:p.Ile660Asn
NM_001199291.2:c.2054T>A NP_001186220.1:p.Ile685Asn
NM_001199292.1:c.1925T>A NP_001186221.1:p.Ile642Asn
NM_001292027.1:c.1907T>A NP_001278956.1:p.Ile636Asn
NM_001292028.1:c.1559T>A NP_001278957.1:p.Ile520Asn
NM_000414.4:c.1979T>A MANE Select NP_000405.1:p.Ile660Asn
NM_001199291.3:c.2054T>A NP_001186220.1:p.Ile685Asn
NM_001199292.2:c.1925T>A NP_001186221.1:p.Ile642Asn
NM_001292027.2:c.1907T>A NP_001278956.1:p.Ile636Asn
NM_001292028.2:c.1559T>A NP_001278957.1:p.Ile520Asn
NM_001374497.1:c.1970T>A NP_001361426.1:p.Ile657Asn
NM_001374498.1:c.1907T>A NP_001361427.1:p.Ile636Asn
NM_001374499.1:c.1652T>A NP_001361428.1:p.Ile551Asn
NM_001374500.1:c.1538T>A NP_001361429.1:p.Ile513Asn
NM_001374501.1:c.1568T>A NP_001361430.1:p.Ile523Asn
NM_001374502.1:c.1568T>A NP_001361431.1:p.Ile523Asn
NM_001374503.1:c.1568T>A NP_001361432.1:p.Ile523Asn
NR_164653.1:n.2076T>A
NR_164654.1:n.2344T>A