Canonical Allele Identifier: CA360868892

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118850677T>A (hg19) ; chr5:g.119514982T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119514982T>A , CM000667.2:g.119514982T>A	GRCh38
NC_000005.9:g.118850677T>A , CM000667.1:g.118850677T>A	GRCh37
NC_000005.8:g.118878576T>A	NCBI36
NG_008182.1:g.67530T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.1370T>A	ENSP00000426272.2:p.Val457Glu
ENST00000518349.6:c.683T>A	ENSP00000507185.1:p.Val228Glu
ENST00000520244.6:n.3177T>A
ENST00000682445.1:c.*1320T>A	ENSP00000508061.1:n.*1320T>A
ENST00000682531.1:n.3331T>A
ENST00000682626.1:c.*945T>A	ENSP00000507857.1:n.*945T>A
ENST00000682996.1:c.1367T>A	ENSP00000507792.1:p.Val456Glu
ENST00000683265.1:n.3225T>A
ENST00000683335.1:n.2841T>A
ENST00000683371.1:c.*1569T>A	ENSP00000508376.1:n.*1569T>A
ENST00000683372.1:n.3449T>A
ENST00000683390.1:n.3129T>A
ENST00000683549.1:n.3053T>A
ENST00000683936.1:c.*3017T>A	ENSP00000507721.1:n.*3017T>A
ENST00000683974.1:n.3213-45T>A
ENST00000683996.1:c.*649T>A	ENSP00000507060.1:n.*649T>A
ENST00000684131.1:n.2971T>A
ENST00000684160.1:c.*1129T>A	ENSP00000507821.1:n.*1129T>A
ENST00000684214.1:c.1439T>A	ENSP00000508071.1:p.Val480Glu
ENST00000414835.7:c.1514T>A	ENSP00000411960.3:p.Val505Glu
ENST00000510025.7:c.1439T>A MANE Select	ENSP00000424940.3:p.Val480Glu
ENST00000643250.1:c.*1311T>A	ENSP00000494737.1:n.*1311T>A
ENST00000644146.1:c.*2710T>A	ENSP00000494808.1:n.*2710T>A
ENST00000645099.1:c.998T>A	ENSP00000496091.1:p.Val333Glu
ENST00000645702.1:c.*842T>A	ENSP00000496432.1:n.*842T>A
ENST00000645832.1:c.*1324T>A	ENSP00000494316.1:n.*1324T>A
ENST00000646058.1:c.1439T>A	ENSP00000493579.1:p.Val480Glu
ENST00000646355.1:c.*1445T>A	ENSP00000493801.1:n.*1445T>A
ENST00000646554.1:c.*1417T>A	ENSP00000494542.1:n.*1417T>A
ENST00000647335.1:c.*1406T>A	ENSP00000495180.1:n.*1406T>A
ENST00000647342.1:c.*1370T>A	ENSP00000494992.1:n.*1370T>A
ENST00000256216.10:c.1439T>A	ENSP00000256216.6:p.Val480Glu
ENST00000414835.6:c.1019T>A	ENSP00000411960.2:p.Val340Glu
ENST00000442060.7:c.*1T>A	ENSP00000390208.3:n.*1T>A
ENST00000504811.5:c.1514T>A	ENSP00000420914.1:p.Val505Glu
ENST00000509514.5:c.653T>A	ENSP00000426272.1:p.Val218Glu
ENST00000510025.5:c.1367T>A	ENSP00000424940.1:p.Val456Glu
ENST00000513628.5:c.1028T>A	ENSP00000425993.1:p.Val343Glu
ENST00000515235.6:n.3192T>A
ENST00000515320.5:c.1385T>A	ENSP00000424613.1:p.Val462Glu
ENST00000518349.5:n.573T>A
ENST00000520244.5:n.222T>A
ENST00000522415.5:n.106T>A
NM_000414.3:c.1439T>A	NP_000405.1:p.Val480Glu
NM_001199291.2:c.1514T>A	NP_001186220.1:p.Val505Glu
NM_001199292.1:c.1385T>A	NP_001186221.1:p.Val462Glu
NM_001292027.1:c.1367T>A	NP_001278956.1:p.Val456Glu
NM_001292028.1:c.1019T>A	NP_001278957.1:p.Val340Glu
NM_000414.4:c.1439T>A MANE Select	NP_000405.1:p.Val480Glu
NM_001199291.3:c.1514T>A	NP_001186220.1:p.Val505Glu
NM_001199292.2:c.1385T>A	NP_001186221.1:p.Val462Glu
NM_001292027.2:c.1367T>A	NP_001278956.1:p.Val456Glu
NM_001292028.2:c.1019T>A	NP_001278957.1:p.Val340Glu
NM_001374497.1:c.1430T>A	NP_001361426.1:p.Val477Glu
NM_001374498.1:c.1367T>A	NP_001361427.1:p.Val456Glu
NM_001374499.1:c.1112T>A	NP_001361428.1:p.Val371Glu
NM_001374500.1:c.998T>A	NP_001361429.1:p.Val333Glu
NM_001374501.1:c.1028T>A	NP_001361430.1:p.Val343Glu
NM_001374502.1:c.1028T>A	NP_001361431.1:p.Val343Glu
NM_001374503.1:c.1028T>A	NP_001361432.1:p.Val343Glu
NR_164653.1:n.1536T>A
NR_164654.1:n.1804T>A