Canonical Allele Identifier: CA360866212

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1337577753
• gnomAD v3: 5-119478904-T-A
• gnomAD v4: 5-119478904-T-A
• MyVariant Identifiers: chr5:g.118814599T>A (hg19) ; chr5:g.119478904T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478904T>A , CM000667.2:g.119478904T>A	GRCh38
NC_000005.9:g.118814599T>A , CM000667.1:g.118814599T>A	GRCh37
NC_000005.8:g.118842498T>A	NCBI36
NG_008182.1:g.31452T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.505T>A	ENSP00000426272.2:p.Leu169Met
ENST00000518349.6:c.113-17639T>A	ENSP00000507185.1:n.113-17639T>A
ENST00000682445.1:c.*386T>A	ENSP00000508061.1:n.*386T>A
ENST00000682531.1:n.606T>A
ENST00000682626.1:c.*11T>A	ENSP00000507857.1:n.*11T>A
ENST00000682996.1:c.505T>A	ENSP00000507792.1:p.Leu169Met
ENST00000683265.1:n.598T>A
ENST00000683371.1:c.*635T>A	ENSP00000508376.1:n.*635T>A
ENST00000683390.1:n.2195T>A
ENST00000683549.1:n.426T>A
ENST00000683936.1:c.*390T>A	ENSP00000507721.1:n.*390T>A
ENST00000683974.1:n.587T>A
ENST00000683996.1:c.94T>A	ENSP00000507060.1:p.Leu32Met
ENST00000684131.1:n.344T>A
ENST00000684160.1:c.*195T>A	ENSP00000507821.1:n.*195T>A
ENST00000684214.1:c.505T>A	ENSP00000508071.1:p.Leu169Met
ENST00000414835.7:c.580T>A	ENSP00000411960.3:p.Leu194Met
ENST00000510025.7:c.505T>A MANE Select	ENSP00000424940.3:p.Leu169Met
ENST00000643250.1:c.*377T>A	ENSP00000494737.1:n.*377T>A
ENST00000644146.1:c.*83T>A	ENSP00000494808.1:n.*83T>A
ENST00000645099.1:c.64T>A	ENSP00000496091.1:p.Leu22Met
ENST00000645702.1:c.94T>A	ENSP00000496432.1:p.Leu32Met
ENST00000645832.1:c.*390T>A	ENSP00000494316.1:n.*390T>A
ENST00000646058.1:c.505T>A	ENSP00000493579.1:p.Leu169Met
ENST00000646355.1:c.*511T>A	ENSP00000493801.1:n.*511T>A
ENST00000646554.1:c.*483T>A	ENSP00000494542.1:n.*483T>A
ENST00000646590.1:c.496T>A	ENSP00000494892.1:p.Leu166Met
ENST00000647335.1:c.*472T>A	ENSP00000495180.1:n.*472T>A
ENST00000647342.1:c.*436T>A	ENSP00000494992.1:n.*436T>A
ENST00000256216.10:c.505T>A	ENSP00000256216.6:p.Leu169Met
ENST00000414835.6:c.85T>A	ENSP00000411960.2:p.Leu29Met
ENST00000442060.7:c.505T>A	ENSP00000390208.3:p.Leu169Met
ENST00000503168.5:n.494T>A
ENST00000504811.5:c.580T>A	ENSP00000420914.1:p.Leu194Met
ENST00000505181.5:n.208T>A
ENST00000508788.5:n.407T>A
ENST00000509514.5:c.-380T>A	ENSP00000426272.1:n.-380T>A
ENST00000510025.5:c.433T>A	ENSP00000424940.1:p.Leu145Met
ENST00000512644.1:n.73T>A
ENST00000512841.5:n.553T>A
ENST00000513628.5:c.94T>A	ENSP00000425993.1:p.Leu32Met
ENST00000515235.6:n.565T>A
ENST00000515320.5:c.451T>A	ENSP00000424613.1:p.Leu151Met
NM_000414.3:c.505T>A	NP_000405.1:p.Leu169Met
NM_001199291.2:c.580T>A	NP_001186220.1:p.Leu194Met
NM_001199292.1:c.451T>A	NP_001186221.1:p.Leu151Met
NM_001292027.1:c.433T>A	NP_001278956.1:p.Leu145Met
NM_001292028.1:c.85T>A	NP_001278957.1:p.Leu29Met
NM_000414.4:c.505T>A MANE Select	NP_000405.1:p.Leu169Met
NM_001199291.3:c.580T>A	NP_001186220.1:p.Leu194Met
NM_001199292.2:c.451T>A	NP_001186221.1:p.Leu151Met
NM_001292027.2:c.433T>A	NP_001278956.1:p.Leu145Met
NM_001292028.2:c.85T>A	NP_001278957.1:p.Leu29Met
NM_001374497.1:c.496T>A	NP_001361426.1:p.Leu166Met
NM_001374498.1:c.505T>A	NP_001361427.1:p.Leu169Met
NM_001374499.1:c.178T>A	NP_001361428.1:p.Leu60Met
NM_001374500.1:c.64T>A	NP_001361429.1:p.Leu22Met
NM_001374501.1:c.94T>A	NP_001361430.1:p.Leu32Met
NM_001374502.1:c.94T>A	NP_001361431.1:p.Leu32Met
NM_001374503.1:c.94T>A	NP_001361432.1:p.Leu32Met
NR_164653.1:n.584T>A
NR_164654.1:n.772T>A