Canonical Allele Identifier: CA360871145

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118867027G>A (hg19) ; chr5:g.119531332G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531332G>A , CM000667.2:g.119531332G>A	GRCh38
NC_000005.9:g.118867027G>A , CM000667.1:g.118867027G>A	GRCh37
NC_000005.8:g.118894926G>A	NCBI36
NG_008182.1:g.83880G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1852G>A	ENSP00000426272.2:p.Glu618Lys
ENST00000518349.6:c.1165G>A	ENSP00000507185.1:p.Glu389Lys
ENST00000682445.1:c.*1802G>A	ENSP00000508061.1:n.*1802G>A
ENST00000682531.1:n.3813G>A
ENST00000682626.1:c.*1427G>A	ENSP00000507857.1:n.*1427G>A
ENST00000682996.1:c.1849G>A	ENSP00000507792.1:p.Glu617Lys
ENST00000683265.1:n.3707G>A
ENST00000683335.1:n.3323G>A
ENST00000683371.1:c.*2051G>A	ENSP00000508376.1:n.*2051G>A
ENST00000683372.1:n.3931G>A
ENST00000683390.1:n.3611G>A
ENST00000683476.1:n.763G>A
ENST00000683549.1:n.3535G>A
ENST00000683936.1:c.*3499G>A	ENSP00000507721.1:n.*3499G>A
ENST00000683974.1:n.3650G>A
ENST00000683996.1:c.*1131G>A	ENSP00000507060.1:n.*1131G>A
ENST00000684131.1:n.3453G>A
ENST00000684160.1:c.*1611G>A	ENSP00000507821.1:n.*1611G>A
ENST00000684214.1:c.1854+1352G>A	ENSP00000508071.1:n.1854+1352G>A
ENST00000414835.7:c.1996G>A	ENSP00000411960.3:p.Glu666Lys
ENST00000510025.7:c.1921G>A MANE Select	ENSP00000424940.3:p.Glu641Lys
ENST00000643250.1:c.*1793G>A	ENSP00000494737.1:n.*1793G>A
ENST00000644146.1:c.*3192G>A	ENSP00000494808.1:n.*3192G>A
ENST00000645099.1:c.1480G>A	ENSP00000496091.1:p.Glu494Lys
ENST00000645702.1:c.*1324G>A	ENSP00000496432.1:n.*1324G>A
ENST00000645832.1:c.*1806G>A	ENSP00000494316.1:n.*1806G>A
ENST00000646058.1:c.1921G>A	ENSP00000493579.1:p.Glu641Lys
ENST00000646355.1:c.*1927G>A	ENSP00000493801.1:n.*1927G>A
ENST00000646554.1:c.*1899G>A	ENSP00000494542.1:n.*1899G>A
ENST00000647335.1:c.*1888G>A	ENSP00000495180.1:n.*1888G>A
ENST00000647342.1:c.*1852G>A	ENSP00000494992.1:n.*1852G>A
ENST00000256216.10:c.1921G>A	ENSP00000256216.6:p.Glu641Lys
ENST00000414835.6:c.1501G>A	ENSP00000411960.2:p.Glu501Lys
ENST00000442060.7:c.*476G>A	ENSP00000390208.3:n.*476G>A
ENST00000504811.5:c.1996G>A	ENSP00000420914.1:p.Glu666Lys
ENST00000509514.5:c.1135G>A	ENSP00000426272.1:p.Glu379Lys
ENST00000509606.1:n.216G>A
ENST00000509951.5:n.309+1352G>A
ENST00000510025.5:c.1849G>A	ENSP00000424940.1:p.Glu617Lys
ENST00000513628.5:c.1510G>A	ENSP00000425993.1:p.Glu504Lys
ENST00000515235.6:n.3674G>A
ENST00000515320.5:c.1867G>A	ENSP00000424613.1:p.Glu623Lys
ENST00000522415.5:n.588G>A
NM_000414.3:c.1921G>A	NP_000405.1:p.Glu641Lys
NM_001199291.2:c.1996G>A	NP_001186220.1:p.Glu666Lys
NM_001199292.1:c.1867G>A	NP_001186221.1:p.Glu623Lys
NM_001292027.1:c.1849G>A	NP_001278956.1:p.Glu617Lys
NM_001292028.1:c.1501G>A	NP_001278957.1:p.Glu501Lys
NM_000414.4:c.1921G>A MANE Select	NP_000405.1:p.Glu641Lys
NM_001199291.3:c.1996G>A	NP_001186220.1:p.Glu666Lys
NM_001199292.2:c.1867G>A	NP_001186221.1:p.Glu623Lys
NM_001292027.2:c.1849G>A	NP_001278956.1:p.Glu617Lys
NM_001292028.2:c.1501G>A	NP_001278957.1:p.Glu501Lys
NM_001374497.1:c.1912G>A	NP_001361426.1:p.Glu638Lys
NM_001374498.1:c.1849G>A	NP_001361427.1:p.Glu617Lys
NM_001374499.1:c.1594G>A	NP_001361428.1:p.Glu532Lys
NM_001374500.1:c.1480G>A	NP_001361429.1:p.Glu494Lys
NM_001374501.1:c.1510G>A	NP_001361430.1:p.Glu504Lys
NM_001374502.1:c.1510G>A	NP_001361431.1:p.Glu504Lys
NM_001374503.1:c.1510G>A	NP_001361432.1:p.Glu504Lys
NR_164653.1:n.2018G>A
NR_164654.1:n.2286G>A