Canonical Allele Identifier: CA360866198

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814593G>A (hg19) ; chr5:g.119478898G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478898G>A , CM000667.2:g.119478898G>A	GRCh38
NC_000005.9:g.118814593G>A , CM000667.1:g.118814593G>A	GRCh37
NC_000005.8:g.118842492G>A	NCBI36
NG_008182.1:g.31446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.499G>A	ENSP00000426272.2:p.Ala167Thr
ENST00000518349.6:c.113-17645G>A	ENSP00000507185.1:n.113-17645G>A
ENST00000682445.1:c.*380G>A	ENSP00000508061.1:n.*380G>A
ENST00000682531.1:n.600G>A
ENST00000682626.1:c.*5G>A	ENSP00000507857.1:n.*5G>A
ENST00000682996.1:c.499G>A	ENSP00000507792.1:p.Ala167Thr
ENST00000683265.1:n.592G>A
ENST00000683371.1:c.*629G>A	ENSP00000508376.1:n.*629G>A
ENST00000683390.1:n.2189G>A
ENST00000683549.1:n.420G>A
ENST00000683936.1:c.*384G>A	ENSP00000507721.1:n.*384G>A
ENST00000683974.1:n.581G>A
ENST00000683996.1:c.88G>A	ENSP00000507060.1:p.Ala30Thr
ENST00000684131.1:n.338G>A
ENST00000684160.1:c.*189G>A	ENSP00000507821.1:n.*189G>A
ENST00000684214.1:c.499G>A	ENSP00000508071.1:p.Ala167Thr
ENST00000414835.7:c.574G>A	ENSP00000411960.3:p.Ala192Thr
ENST00000510025.7:c.499G>A MANE Select	ENSP00000424940.3:p.Ala167Thr
ENST00000643250.1:c.*371G>A	ENSP00000494737.1:n.*371G>A
ENST00000644146.1:c.*77G>A	ENSP00000494808.1:n.*77G>A
ENST00000645099.1:c.58G>A	ENSP00000496091.1:p.Ala20Thr
ENST00000645702.1:c.88G>A	ENSP00000496432.1:p.Ala30Thr
ENST00000645832.1:c.*384G>A	ENSP00000494316.1:n.*384G>A
ENST00000646058.1:c.499G>A	ENSP00000493579.1:p.Ala167Thr
ENST00000646355.1:c.*505G>A	ENSP00000493801.1:n.*505G>A
ENST00000646554.1:c.*477G>A	ENSP00000494542.1:n.*477G>A
ENST00000646590.1:c.490G>A	ENSP00000494892.1:p.Ala164Thr
ENST00000647335.1:c.*466G>A	ENSP00000495180.1:n.*466G>A
ENST00000647342.1:c.*430G>A	ENSP00000494992.1:n.*430G>A
ENST00000256216.10:c.499G>A	ENSP00000256216.6:p.Ala167Thr
ENST00000414835.6:c.79G>A	ENSP00000411960.2:p.Ala27Thr
ENST00000442060.7:c.499G>A	ENSP00000390208.3:p.Ala167Thr
ENST00000503168.5:n.488G>A
ENST00000504811.5:c.574G>A	ENSP00000420914.1:p.Ala192Thr
ENST00000505181.5:n.202G>A
ENST00000508788.5:n.401G>A
ENST00000509514.5:c.-386G>A	ENSP00000426272.1:n.-386G>A
ENST00000510025.5:c.427G>A	ENSP00000424940.1:p.Ala143Thr
ENST00000512644.1:n.67G>A
ENST00000512841.5:n.547G>A
ENST00000513628.5:c.88G>A	ENSP00000425993.1:p.Ala30Thr
ENST00000515235.6:n.559G>A
ENST00000515320.5:c.445G>A	ENSP00000424613.1:p.Ala149Thr
NM_000414.3:c.499G>A	NP_000405.1:p.Ala167Thr
NM_001199291.2:c.574G>A	NP_001186220.1:p.Ala192Thr
NM_001199292.1:c.445G>A	NP_001186221.1:p.Ala149Thr
NM_001292027.1:c.427G>A	NP_001278956.1:p.Ala143Thr
NM_001292028.1:c.79G>A	NP_001278957.1:p.Ala27Thr
NM_000414.4:c.499G>A MANE Select	NP_000405.1:p.Ala167Thr
NM_001199291.3:c.574G>A	NP_001186220.1:p.Ala192Thr
NM_001199292.2:c.445G>A	NP_001186221.1:p.Ala149Thr
NM_001292027.2:c.427G>A	NP_001278956.1:p.Ala143Thr
NM_001292028.2:c.79G>A	NP_001278957.1:p.Ala27Thr
NM_001374497.1:c.490G>A	NP_001361426.1:p.Ala164Thr
NM_001374498.1:c.499G>A	NP_001361427.1:p.Ala167Thr
NM_001374499.1:c.172G>A	NP_001361428.1:p.Ala58Thr
NM_001374500.1:c.58G>A	NP_001361429.1:p.Ala20Thr
NM_001374501.1:c.88G>A	NP_001361430.1:p.Ala30Thr
NM_001374502.1:c.88G>A	NP_001361431.1:p.Ala30Thr
NM_001374503.1:c.88G>A	NP_001361432.1:p.Ala30Thr
NR_164653.1:n.578G>A
NR_164654.1:n.766G>A