Canonical Allele Identifier: CA446041408
Gene: HSD17B4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.118814559A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119478864A>T , CM000667.2:g.119478864A>T GRCh38
NC_000005.9:g.118814559A>T , CM000667.1:g.118814559A>T GRCh37
NC_000005.8:g.118842458A>T NCBI36
NG_008182.1:g.31412A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.465A>T ENSP00000426272.2:p.Ile155=
ENST00000518349.6:c.113-17679A>T ENSP00000507185.1:n.113-17679A>T
ENST00000682445.1:c.*346A>T ENSP00000508061.1:n.*346A>T
ENST00000682531.1:n.566A>T
ENST00000682626.1:c.493A>T ENSP00000507857.1:p.Ile165Leu
ENST00000682996.1:c.465A>T ENSP00000507792.1:p.Ile155=
ENST00000683265.1:n.558A>T
ENST00000683371.1:c.*595A>T ENSP00000508376.1:n.*595A>T
ENST00000683390.1:n.2155A>T
ENST00000683549.1:n.386A>T
ENST00000683936.1:c.*350A>T ENSP00000507721.1:n.*350A>T
ENST00000683974.1:n.547A>T
ENST00000683996.1:c.54A>T ENSP00000507060.1:p.Ile18=
ENST00000684131.1:n.304A>T
ENST00000684160.1:c.*155A>T ENSP00000507821.1:n.*155A>T
ENST00000684214.1:c.465A>T ENSP00000508071.1:p.Ile155=
ENST00000414835.7:c.540A>T ENSP00000411960.3:p.Ile180=
ENST00000510025.7:c.465A>T MANE Select ENSP00000424940.3:p.Ile155=
ENST00000643250.1:c.*337A>T ENSP00000494737.1:n.*337A>T
ENST00000644146.1:c.*43A>T ENSP00000494808.1:n.*43A>T
ENST00000645099.1:c.24A>T ENSP00000496091.1:p.Ile8=
ENST00000645702.1:c.54A>T ENSP00000496432.1:p.Ile18=
ENST00000645832.1:c.*350A>T ENSP00000494316.1:n.*350A>T
ENST00000646058.1:c.465A>T ENSP00000493579.1:p.Ile155=
ENST00000646355.1:c.*471A>T ENSP00000493801.1:n.*471A>T
ENST00000646554.1:c.*443A>T ENSP00000494542.1:n.*443A>T
ENST00000646590.1:c.456A>T ENSP00000494892.1:p.Ile152=
ENST00000647335.1:c.*432A>T ENSP00000495180.1:n.*432A>T
ENST00000647342.1:c.*396A>T ENSP00000494992.1:n.*396A>T
ENST00000256216.10:c.465A>T ENSP00000256216.6:p.Ile155=
ENST00000414835.6:c.45A>T ENSP00000411960.2:p.Ile15=
ENST00000442060.7:c.465A>T ENSP00000390208.3:p.Ile155=
ENST00000503168.5:n.454A>T
ENST00000504811.5:c.540A>T ENSP00000420914.1:p.Ile180=
ENST00000505181.5:n.168A>T
ENST00000508788.5:n.367A>T
ENST00000509514.5:c.-420A>T ENSP00000426272.1:n.-420A>T
ENST00000510025.5:c.393A>T ENSP00000424940.1:p.Ile131=
ENST00000512644.1:n.33A>T
ENST00000512841.5:n.513A>T
ENST00000513628.5:c.54A>T ENSP00000425993.1:p.Ile18=
ENST00000515235.6:n.525A>T
ENST00000515320.5:c.411A>T ENSP00000424613.1:p.Ile137=
NM_000414.3:c.465A>T NP_000405.1:p.Ile155=
NM_001199291.2:c.540A>T NP_001186220.1:p.Ile180=
NM_001199292.1:c.411A>T NP_001186221.1:p.Ile137=
NM_001292027.1:c.393A>T NP_001278956.1:p.Ile131=
NM_001292028.1:c.45A>T NP_001278957.1:p.Ile15=
NM_000414.4:c.465A>T MANE Select NP_000405.1:p.Ile155=
NM_001199291.3:c.540A>T NP_001186220.1:p.Ile180=
NM_001199292.2:c.411A>T NP_001186221.1:p.Ile137=
NM_001292027.2:c.393A>T NP_001278956.1:p.Ile131=
NM_001292028.2:c.45A>T NP_001278957.1:p.Ile15=
NM_001374497.1:c.456A>T NP_001361426.1:p.Ile152=
NM_001374498.1:c.465A>T NP_001361427.1:p.Ile155=
NM_001374499.1:c.138A>T NP_001361428.1:p.Ile46=
NM_001374500.1:c.24A>T NP_001361429.1:p.Ile8=
NM_001374501.1:c.54A>T NP_001361430.1:p.Ile18=
NM_001374502.1:c.54A>T NP_001361431.1:p.Ile18=
NM_001374503.1:c.54A>T NP_001361432.1:p.Ile18=
NR_164653.1:n.544A>T
NR_164654.1:n.732A>T