Canonical Allele Identifier: CA446041353
Gene: HSD17B4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.118814535T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119478840T>A , CM000667.2:g.119478840T>A GRCh38
NC_000005.9:g.118814535T>A , CM000667.1:g.118814535T>A GRCh37
NC_000005.8:g.118842434T>A NCBI36
NG_008182.1:g.31388T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.441T>A ENSP00000426272.2:p.Ile147=
ENST00000518349.6:c.113-17703T>A ENSP00000507185.1:n.113-17703T>A
ENST00000682445.1:c.*322T>A ENSP00000508061.1:n.*322T>A
ENST00000682531.1:n.542T>A
ENST00000682626.1:c.469T>A ENSP00000507857.1:p.Tyr157Asn
ENST00000682996.1:c.441T>A ENSP00000507792.1:p.Ile147=
ENST00000683265.1:n.534T>A
ENST00000683371.1:c.*571T>A ENSP00000508376.1:n.*571T>A
ENST00000683390.1:n.2131T>A
ENST00000683549.1:n.362T>A
ENST00000683936.1:c.*326T>A ENSP00000507721.1:n.*326T>A
ENST00000683974.1:n.523T>A
ENST00000683996.1:c.30T>A ENSP00000507060.1:p.Ile10=
ENST00000684131.1:n.280T>A
ENST00000684160.1:c.*131T>A ENSP00000507821.1:n.*131T>A
ENST00000684214.1:c.441T>A ENSP00000508071.1:p.Ile147=
ENST00000414835.7:c.516T>A ENSP00000411960.3:p.Ile172=
ENST00000510025.7:c.441T>A MANE Select ENSP00000424940.3:p.Ile147=
ENST00000643250.1:c.*313T>A ENSP00000494737.1:n.*313T>A
ENST00000644146.1:c.*19T>A ENSP00000494808.1:n.*19T>A
ENST00000645099.1:c.-1T>A ENSP00000496091.1:n.-1T>A
ENST00000645702.1:c.30T>A ENSP00000496432.1:p.Ile10=
ENST00000645832.1:c.*326T>A ENSP00000494316.1:n.*326T>A
ENST00000646058.1:c.441T>A ENSP00000493579.1:p.Ile147=
ENST00000646355.1:c.*447T>A ENSP00000493801.1:n.*447T>A
ENST00000646554.1:c.*419T>A ENSP00000494542.1:n.*419T>A
ENST00000646590.1:c.432T>A ENSP00000494892.1:p.Ile144=
ENST00000647335.1:c.*408T>A ENSP00000495180.1:n.*408T>A
ENST00000647342.1:c.*372T>A ENSP00000494992.1:n.*372T>A
ENST00000256216.10:c.441T>A ENSP00000256216.6:p.Ile147=
ENST00000414835.6:c.21T>A ENSP00000411960.2:p.Ile7=
ENST00000442060.7:c.441T>A ENSP00000390208.3:p.Ile147=
ENST00000503168.5:n.430T>A
ENST00000504811.5:c.516T>A ENSP00000420914.1:p.Ile172=
ENST00000505181.5:n.144T>A
ENST00000508788.5:n.343T>A
ENST00000509514.5:c.-444T>A ENSP00000426272.1:n.-444T>A
ENST00000510025.5:c.369T>A ENSP00000424940.1:p.Ile123=
ENST00000512644.1:n.9T>A
ENST00000512841.5:n.489T>A
ENST00000513628.5:c.30T>A ENSP00000425993.1:p.Ile10=
ENST00000515235.6:n.501T>A
ENST00000515320.5:c.387T>A ENSP00000424613.1:p.Ile129=
NM_000414.3:c.441T>A NP_000405.1:p.Ile147=
NM_001199291.2:c.516T>A NP_001186220.1:p.Ile172=
NM_001199292.1:c.387T>A NP_001186221.1:p.Ile129=
NM_001292027.1:c.369T>A NP_001278956.1:p.Ile123=
NM_001292028.1:c.21T>A NP_001278957.1:p.Ile7=
NM_000414.4:c.441T>A MANE Select NP_000405.1:p.Ile147=
NM_001199291.3:c.516T>A NP_001186220.1:p.Ile172=
NM_001199292.2:c.387T>A NP_001186221.1:p.Ile129=
NM_001292027.2:c.369T>A NP_001278956.1:p.Ile123=
NM_001292028.2:c.21T>A NP_001278957.1:p.Ile7=
NM_001374497.1:c.432T>A NP_001361426.1:p.Ile144=
NM_001374498.1:c.441T>A NP_001361427.1:p.Ile147=
NM_001374499.1:c.114T>A NP_001361428.1:p.Ile38=
NM_001374500.1:c.-1T>A NP_001361429.1:n.-1T>A
NM_001374501.1:c.30T>A NP_001361430.1:p.Ile10=
NM_001374502.1:c.30T>A NP_001361431.1:p.Ile10=
NM_001374503.1:c.30T>A NP_001361432.1:p.Ile10=
NR_164653.1:n.520T>A
NR_164654.1:n.708T>A