Canonical Allele Identifier: CA446041505

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814628T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478933T>A , CM000667.2:g.119478933T>A	GRCh38
NC_000005.9:g.118814628T>A , CM000667.1:g.118814628T>A	GRCh37
NC_000005.8:g.118842527T>A	NCBI36
NG_008182.1:g.31481T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.534T>A	ENSP00000426272.2:p.Leu178=
ENST00000518349.6:c.113-17610T>A	ENSP00000507185.1:n.113-17610T>A
ENST00000682445.1:c.*415T>A	ENSP00000508061.1:n.*415T>A
ENST00000682531.1:n.635T>A
ENST00000682626.1:c.*40T>A	ENSP00000507857.1:n.*40T>A
ENST00000682996.1:c.534T>A	ENSP00000507792.1:p.Leu178=
ENST00000683265.1:n.627T>A
ENST00000683371.1:c.*664T>A	ENSP00000508376.1:n.*664T>A
ENST00000683390.1:n.2224T>A
ENST00000683549.1:n.455T>A
ENST00000683936.1:c.*419T>A	ENSP00000507721.1:n.*419T>A
ENST00000683974.1:n.616T>A
ENST00000683996.1:c.123T>A	ENSP00000507060.1:p.Leu41=
ENST00000684131.1:n.373T>A
ENST00000684160.1:c.*224T>A	ENSP00000507821.1:n.*224T>A
ENST00000684214.1:c.534T>A	ENSP00000508071.1:p.Leu178=
ENST00000414835.7:c.609T>A	ENSP00000411960.3:p.Leu203=
ENST00000510025.7:c.534T>A MANE Select	ENSP00000424940.3:p.Leu178=
ENST00000643250.1:c.*406T>A	ENSP00000494737.1:n.*406T>A
ENST00000644146.1:c.*112T>A	ENSP00000494808.1:n.*112T>A
ENST00000645099.1:c.93T>A	ENSP00000496091.1:p.Leu31=
ENST00000645702.1:c.123T>A	ENSP00000496432.1:p.Leu41=
ENST00000645832.1:c.*419T>A	ENSP00000494316.1:n.*419T>A
ENST00000646058.1:c.534T>A	ENSP00000493579.1:p.Leu178=
ENST00000646355.1:c.*540T>A	ENSP00000493801.1:n.*540T>A
ENST00000646554.1:c.*512T>A	ENSP00000494542.1:n.*512T>A
ENST00000647335.1:c.*501T>A	ENSP00000495180.1:n.*501T>A
ENST00000647342.1:c.*465T>A	ENSP00000494992.1:n.*465T>A
ENST00000256216.10:c.534T>A	ENSP00000256216.6:p.Leu178=
ENST00000414835.6:c.114T>A	ENSP00000411960.2:p.Leu38=
ENST00000442060.7:c.534T>A	ENSP00000390208.3:p.Leu178=
ENST00000503168.5:n.523T>A
ENST00000504811.5:c.609T>A	ENSP00000420914.1:p.Leu203=
ENST00000505181.5:n.237T>A
ENST00000508788.5:n.436T>A
ENST00000509514.5:c.-351T>A	ENSP00000426272.1:n.-351T>A
ENST00000510025.5:c.462T>A	ENSP00000424940.1:p.Leu154=
ENST00000512644.1:n.102T>A
ENST00000512841.5:n.582T>A
ENST00000513628.5:c.123T>A	ENSP00000425993.1:p.Leu41=
ENST00000515235.6:n.594T>A
ENST00000515320.5:c.480T>A	ENSP00000424613.1:p.Leu160=
NM_000414.3:c.534T>A	NP_000405.1:p.Leu178=
NM_001199291.2:c.609T>A	NP_001186220.1:p.Leu203=
NM_001199292.1:c.480T>A	NP_001186221.1:p.Leu160=
NM_001292027.1:c.462T>A	NP_001278956.1:p.Leu154=
NM_001292028.1:c.114T>A	NP_001278957.1:p.Leu38=
NM_000414.4:c.534T>A MANE Select	NP_000405.1:p.Leu178=
NM_001199291.3:c.609T>A	NP_001186220.1:p.Leu203=
NM_001199292.2:c.480T>A	NP_001186221.1:p.Leu160=
NM_001292027.2:c.462T>A	NP_001278956.1:p.Leu154=
NM_001292028.2:c.114T>A	NP_001278957.1:p.Leu38=
NM_001374497.1:c.525T>A	NP_001361426.1:p.Leu175=
NM_001374498.1:c.534T>A	NP_001361427.1:p.Leu178=
NM_001374499.1:c.207T>A	NP_001361428.1:p.Leu69=
NM_001374500.1:c.93T>A	NP_001361429.1:p.Leu31=
NM_001374501.1:c.123T>A	NP_001361430.1:p.Leu41=
NM_001374502.1:c.123T>A	NP_001361431.1:p.Leu41=
NM_001374503.1:c.123T>A	NP_001361432.1:p.Leu41=
NR_164653.1:n.613T>A
NR_164654.1:n.801T>A