Canonical Allele Identifier: CA360866215
Gene: HSD17B4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119478905T>C , CM000667.2:g.119478905T>C GRCh38
NC_000005.9:g.118814600T>C , CM000667.1:g.118814600T>C GRCh37
NC_000005.8:g.118842499T>C NCBI36
NG_008182.1:g.31453T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.506T>C ENSP00000426272.2:p.Leu169Ser
ENST00000518349.6:c.113-17638T>C ENSP00000507185.1:n.113-17638T>C
ENST00000682445.1:c.*387T>C ENSP00000508061.1:n.*387T>C
ENST00000682531.1:n.607T>C
ENST00000682626.1:c.*12T>C ENSP00000507857.1:n.*12T>C
ENST00000682996.1:c.506T>C ENSP00000507792.1:p.Leu169Ser
ENST00000683265.1:n.599T>C
ENST00000683371.1:c.*636T>C ENSP00000508376.1:n.*636T>C
ENST00000683390.1:n.2196T>C
ENST00000683549.1:n.427T>C
ENST00000683936.1:c.*391T>C ENSP00000507721.1:n.*391T>C
ENST00000683974.1:n.588T>C
ENST00000683996.1:c.95T>C ENSP00000507060.1:p.Leu32Ser
ENST00000684131.1:n.345T>C
ENST00000684160.1:c.*196T>C ENSP00000507821.1:n.*196T>C
ENST00000684214.1:c.506T>C ENSP00000508071.1:p.Leu169Ser
ENST00000414835.7:c.581T>C ENSP00000411960.3:p.Leu194Ser
ENST00000510025.7:c.506T>C MANE Select ENSP00000424940.3:p.Leu169Ser
ENST00000643250.1:c.*378T>C ENSP00000494737.1:n.*378T>C
ENST00000644146.1:c.*84T>C ENSP00000494808.1:n.*84T>C
ENST00000645099.1:c.65T>C ENSP00000496091.1:p.Leu22Ser
ENST00000645702.1:c.95T>C ENSP00000496432.1:p.Leu32Ser
ENST00000645832.1:c.*391T>C ENSP00000494316.1:n.*391T>C
ENST00000646058.1:c.506T>C ENSP00000493579.1:p.Leu169Ser
ENST00000646355.1:c.*512T>C ENSP00000493801.1:n.*512T>C
ENST00000646554.1:c.*484T>C ENSP00000494542.1:n.*484T>C
ENST00000646590.1:c.497T>C ENSP00000494892.1:p.Leu166Ser
ENST00000647335.1:c.*473T>C ENSP00000495180.1:n.*473T>C
ENST00000647342.1:c.*437T>C ENSP00000494992.1:n.*437T>C
ENST00000256216.10:c.506T>C ENSP00000256216.6:p.Leu169Ser
ENST00000414835.6:c.86T>C ENSP00000411960.2:p.Leu29Ser
ENST00000442060.7:c.506T>C ENSP00000390208.3:p.Leu169Ser
ENST00000503168.5:n.495T>C
ENST00000504811.5:c.581T>C ENSP00000420914.1:p.Leu194Ser
ENST00000505181.5:n.209T>C
ENST00000508788.5:n.408T>C
ENST00000509514.5:c.-379T>C ENSP00000426272.1:n.-379T>C
ENST00000510025.5:c.434T>C ENSP00000424940.1:p.Leu145Ser
ENST00000512644.1:n.74T>C
ENST00000512841.5:n.554T>C
ENST00000513628.5:c.95T>C ENSP00000425993.1:p.Leu32Ser
ENST00000515235.6:n.566T>C
ENST00000515320.5:c.452T>C ENSP00000424613.1:p.Leu151Ser
NM_000414.3:c.506T>C NP_000405.1:p.Leu169Ser
NM_001199291.2:c.581T>C NP_001186220.1:p.Leu194Ser
NM_001199292.1:c.452T>C NP_001186221.1:p.Leu151Ser
NM_001292027.1:c.434T>C NP_001278956.1:p.Leu145Ser
NM_001292028.1:c.86T>C NP_001278957.1:p.Leu29Ser
NM_000414.4:c.506T>C MANE Select NP_000405.1:p.Leu169Ser
NM_001199291.3:c.581T>C NP_001186220.1:p.Leu194Ser
NM_001199292.2:c.452T>C NP_001186221.1:p.Leu151Ser
NM_001292027.2:c.434T>C NP_001278956.1:p.Leu145Ser
NM_001292028.2:c.86T>C NP_001278957.1:p.Leu29Ser
NM_001374497.1:c.497T>C NP_001361426.1:p.Leu166Ser
NM_001374498.1:c.506T>C NP_001361427.1:p.Leu169Ser
NM_001374499.1:c.179T>C NP_001361428.1:p.Leu60Ser
NM_001374500.1:c.65T>C NP_001361429.1:p.Leu22Ser
NM_001374501.1:c.95T>C NP_001361430.1:p.Leu32Ser
NM_001374502.1:c.95T>C NP_001361431.1:p.Leu32Ser
NM_001374503.1:c.95T>C NP_001361432.1:p.Leu32Ser
NR_164653.1:n.585T>C
NR_164654.1:n.773T>C