Canonical Allele Identifier: CA360866190
Gene: HSD17B4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119478894T>G , CM000667.2:g.119478894T>G GRCh38
NC_000005.9:g.118814589T>G , CM000667.1:g.118814589T>G GRCh37
NC_000005.8:g.118842488T>G NCBI36
NG_008182.1:g.31442T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.495T>G ENSP00000426272.2:p.Ser165Arg
ENST00000518349.6:c.113-17649T>G ENSP00000507185.1:n.113-17649T>G
ENST00000682445.1:c.*376T>G ENSP00000508061.1:n.*376T>G
ENST00000682531.1:n.596T>G
ENST00000682626.1:c.*1T>G ENSP00000507857.1:n.*1T>G
ENST00000682996.1:c.495T>G ENSP00000507792.1:p.Ser165Arg
ENST00000683265.1:n.588T>G
ENST00000683371.1:c.*625T>G ENSP00000508376.1:n.*625T>G
ENST00000683390.1:n.2185T>G
ENST00000683549.1:n.416T>G
ENST00000683936.1:c.*380T>G ENSP00000507721.1:n.*380T>G
ENST00000683974.1:n.577T>G
ENST00000683996.1:c.84T>G ENSP00000507060.1:p.Ser28Arg
ENST00000684131.1:n.334T>G
ENST00000684160.1:c.*185T>G ENSP00000507821.1:n.*185T>G
ENST00000684214.1:c.495T>G ENSP00000508071.1:p.Ser165Arg
ENST00000414835.7:c.570T>G ENSP00000411960.3:p.Ser190Arg
ENST00000510025.7:c.495T>G MANE Select ENSP00000424940.3:p.Ser165Arg
ENST00000643250.1:c.*367T>G ENSP00000494737.1:n.*367T>G
ENST00000644146.1:c.*73T>G ENSP00000494808.1:n.*73T>G
ENST00000645099.1:c.54T>G ENSP00000496091.1:p.Ser18Arg
ENST00000645702.1:c.84T>G ENSP00000496432.1:p.Ser28Arg
ENST00000645832.1:c.*380T>G ENSP00000494316.1:n.*380T>G
ENST00000646058.1:c.495T>G ENSP00000493579.1:p.Ser165Arg
ENST00000646355.1:c.*501T>G ENSP00000493801.1:n.*501T>G
ENST00000646554.1:c.*473T>G ENSP00000494542.1:n.*473T>G
ENST00000646590.1:c.486T>G ENSP00000494892.1:p.Ser162Arg
ENST00000647335.1:c.*462T>G ENSP00000495180.1:n.*462T>G
ENST00000647342.1:c.*426T>G ENSP00000494992.1:n.*426T>G
ENST00000256216.10:c.495T>G ENSP00000256216.6:p.Ser165Arg
ENST00000414835.6:c.75T>G ENSP00000411960.2:p.Ser25Arg
ENST00000442060.7:c.495T>G ENSP00000390208.3:p.Ser165Arg
ENST00000503168.5:n.484T>G
ENST00000504811.5:c.570T>G ENSP00000420914.1:p.Ser190Arg
ENST00000505181.5:n.198T>G
ENST00000508788.5:n.397T>G
ENST00000509514.5:c.-390T>G ENSP00000426272.1:n.-390T>G
ENST00000510025.5:c.423T>G ENSP00000424940.1:p.Ser141Arg
ENST00000512644.1:n.63T>G
ENST00000512841.5:n.543T>G
ENST00000513628.5:c.84T>G ENSP00000425993.1:p.Ser28Arg
ENST00000515235.6:n.555T>G
ENST00000515320.5:c.441T>G ENSP00000424613.1:p.Ser147Arg
NM_000414.3:c.495T>G NP_000405.1:p.Ser165Arg
NM_001199291.2:c.570T>G NP_001186220.1:p.Ser190Arg
NM_001199292.1:c.441T>G NP_001186221.1:p.Ser147Arg
NM_001292027.1:c.423T>G NP_001278956.1:p.Ser141Arg
NM_001292028.1:c.75T>G NP_001278957.1:p.Ser25Arg
NM_000414.4:c.495T>G MANE Select NP_000405.1:p.Ser165Arg
NM_001199291.3:c.570T>G NP_001186220.1:p.Ser190Arg
NM_001199292.2:c.441T>G NP_001186221.1:p.Ser147Arg
NM_001292027.2:c.423T>G NP_001278956.1:p.Ser141Arg
NM_001292028.2:c.75T>G NP_001278957.1:p.Ser25Arg
NM_001374497.1:c.486T>G NP_001361426.1:p.Ser162Arg
NM_001374498.1:c.495T>G NP_001361427.1:p.Ser165Arg
NM_001374499.1:c.168T>G NP_001361428.1:p.Ser56Arg
NM_001374500.1:c.54T>G NP_001361429.1:p.Ser18Arg
NM_001374501.1:c.84T>G NP_001361430.1:p.Ser28Arg
NM_001374502.1:c.84T>G NP_001361431.1:p.Ser28Arg
NM_001374503.1:c.84T>G NP_001361432.1:p.Ser28Arg
NR_164653.1:n.574T>G
NR_164654.1:n.762T>G