Canonical Allele Identifier: CA360869004
Gene: HSD17B4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119515041A>T , CM000667.2:g.119515041A>T GRCh38
NC_000005.9:g.118850736A>T , CM000667.1:g.118850736A>T GRCh37
NC_000005.8:g.118878635A>T NCBI36
NG_008182.1:g.67589A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.1429A>T ENSP00000426272.2:p.Asn477Tyr
ENST00000518349.6:c.742A>T ENSP00000507185.1:p.Asn248Tyr
ENST00000520244.6:n.3236A>T
ENST00000682445.1:c.*1379A>T ENSP00000508061.1:n.*1379A>T
ENST00000682531.1:n.3390A>T
ENST00000682626.1:c.*1004A>T ENSP00000507857.1:n.*1004A>T
ENST00000682996.1:c.1426A>T ENSP00000507792.1:p.Asn476Tyr
ENST00000683265.1:n.3284A>T
ENST00000683335.1:n.2900A>T
ENST00000683371.1:c.*1628A>T ENSP00000508376.1:n.*1628A>T
ENST00000683372.1:n.3508A>T
ENST00000683390.1:n.3188A>T
ENST00000683549.1:n.3112A>T
ENST00000683936.1:c.*3076A>T ENSP00000507721.1:n.*3076A>T
ENST00000683974.1:n.3227A>T
ENST00000683996.1:c.*708A>T ENSP00000507060.1:n.*708A>T
ENST00000684131.1:n.3030A>T
ENST00000684160.1:c.*1188A>T ENSP00000507821.1:n.*1188A>T
ENST00000684214.1:c.1498A>T ENSP00000508071.1:p.Asn500Tyr
ENST00000414835.7:c.1573A>T ENSP00000411960.3:p.Asn525Tyr
ENST00000510025.7:c.1498A>T MANE Select ENSP00000424940.3:p.Asn500Tyr
ENST00000643250.1:c.*1370A>T ENSP00000494737.1:n.*1370A>T
ENST00000644146.1:c.*2769A>T ENSP00000494808.1:n.*2769A>T
ENST00000645099.1:c.1057A>T ENSP00000496091.1:p.Asn353Tyr
ENST00000645702.1:c.*901A>T ENSP00000496432.1:n.*901A>T
ENST00000645832.1:c.*1383A>T ENSP00000494316.1:n.*1383A>T
ENST00000646058.1:c.1498A>T ENSP00000493579.1:p.Asn500Tyr
ENST00000646355.1:c.*1504A>T ENSP00000493801.1:n.*1504A>T
ENST00000646554.1:c.*1476A>T ENSP00000494542.1:n.*1476A>T
ENST00000647335.1:c.*1465A>T ENSP00000495180.1:n.*1465A>T
ENST00000647342.1:c.*1429A>T ENSP00000494992.1:n.*1429A>T
ENST00000256216.10:c.1498A>T ENSP00000256216.6:p.Asn500Tyr
ENST00000414835.6:c.1078A>T ENSP00000411960.2:p.Asn360Tyr
ENST00000442060.7:c.*60A>T ENSP00000390208.3:n.*60A>T
ENST00000504811.5:c.1573A>T ENSP00000420914.1:p.Asn525Tyr
ENST00000509514.5:c.712A>T ENSP00000426272.1:p.Asn238Tyr
ENST00000510025.5:c.1426A>T ENSP00000424940.1:p.Asn476Tyr
ENST00000513628.5:c.1087A>T ENSP00000425993.1:p.Asn363Tyr
ENST00000515235.6:n.3251A>T
ENST00000515320.5:c.1444A>T ENSP00000424613.1:p.Asn482Tyr
ENST00000518349.5:n.632A>T
ENST00000520244.5:n.281A>T
ENST00000522415.5:n.165A>T
NM_000414.3:c.1498A>T NP_000405.1:p.Asn500Tyr
NM_001199291.2:c.1573A>T NP_001186220.1:p.Asn525Tyr
NM_001199292.1:c.1444A>T NP_001186221.1:p.Asn482Tyr
NM_001292027.1:c.1426A>T NP_001278956.1:p.Asn476Tyr
NM_001292028.1:c.1078A>T NP_001278957.1:p.Asn360Tyr
NM_000414.4:c.1498A>T MANE Select NP_000405.1:p.Asn500Tyr
NM_001199291.3:c.1573A>T NP_001186220.1:p.Asn525Tyr
NM_001199292.2:c.1444A>T NP_001186221.1:p.Asn482Tyr
NM_001292027.2:c.1426A>T NP_001278956.1:p.Asn476Tyr
NM_001292028.2:c.1078A>T NP_001278957.1:p.Asn360Tyr
NM_001374497.1:c.1489A>T NP_001361426.1:p.Asn497Tyr
NM_001374498.1:c.1426A>T NP_001361427.1:p.Asn476Tyr
NM_001374499.1:c.1171A>T NP_001361428.1:p.Asn391Tyr
NM_001374500.1:c.1057A>T NP_001361429.1:p.Asn353Tyr
NM_001374501.1:c.1087A>T NP_001361430.1:p.Asn363Tyr
NM_001374502.1:c.1087A>T NP_001361431.1:p.Asn363Tyr
NM_001374503.1:c.1087A>T NP_001361432.1:p.Asn363Tyr
NR_164653.1:n.1595A>T
NR_164654.1:n.1863A>T