Canonical Allele Identifier: CA360866230

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814606T>G (hg19) ; chr5:g.119478911T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478911T>G , CM000667.2:g.119478911T>G	GRCh38
NC_000005.9:g.118814606T>G , CM000667.1:g.118814606T>G	GRCh37
NC_000005.8:g.118842505T>G	NCBI36
NG_008182.1:g.31459T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.512T>G	ENSP00000426272.2:p.Leu171Arg
ENST00000518349.6:c.113-17632T>G	ENSP00000507185.1:n.113-17632T>G
ENST00000682445.1:c.*393T>G	ENSP00000508061.1:n.*393T>G
ENST00000682531.1:n.613T>G
ENST00000682626.1:c.*18T>G	ENSP00000507857.1:n.*18T>G
ENST00000682996.1:c.512T>G	ENSP00000507792.1:p.Leu171Arg
ENST00000683265.1:n.605T>G
ENST00000683371.1:c.*642T>G	ENSP00000508376.1:n.*642T>G
ENST00000683390.1:n.2202T>G
ENST00000683549.1:n.433T>G
ENST00000683936.1:c.*397T>G	ENSP00000507721.1:n.*397T>G
ENST00000683974.1:n.594T>G
ENST00000683996.1:c.101T>G	ENSP00000507060.1:p.Leu34Arg
ENST00000684131.1:n.351T>G
ENST00000684160.1:c.*202T>G	ENSP00000507821.1:n.*202T>G
ENST00000684214.1:c.512T>G	ENSP00000508071.1:p.Leu171Arg
ENST00000414835.7:c.587T>G	ENSP00000411960.3:p.Leu196Arg
ENST00000510025.7:c.512T>G MANE Select	ENSP00000424940.3:p.Leu171Arg
ENST00000643250.1:c.*384T>G	ENSP00000494737.1:n.*384T>G
ENST00000644146.1:c.*90T>G	ENSP00000494808.1:n.*90T>G
ENST00000645099.1:c.71T>G	ENSP00000496091.1:p.Leu24Arg
ENST00000645702.1:c.101T>G	ENSP00000496432.1:p.Leu34Arg
ENST00000645832.1:c.*397T>G	ENSP00000494316.1:n.*397T>G
ENST00000646058.1:c.512T>G	ENSP00000493579.1:p.Leu171Arg
ENST00000646355.1:c.*518T>G	ENSP00000493801.1:n.*518T>G
ENST00000646554.1:c.*490T>G	ENSP00000494542.1:n.*490T>G
ENST00000647335.1:c.*479T>G	ENSP00000495180.1:n.*479T>G
ENST00000647342.1:c.*443T>G	ENSP00000494992.1:n.*443T>G
ENST00000256216.10:c.512T>G	ENSP00000256216.6:p.Leu171Arg
ENST00000414835.6:c.92T>G	ENSP00000411960.2:p.Leu31Arg
ENST00000442060.7:c.512T>G	ENSP00000390208.3:p.Leu171Arg
ENST00000503168.5:n.501T>G
ENST00000504811.5:c.587T>G	ENSP00000420914.1:p.Leu196Arg
ENST00000505181.5:n.215T>G
ENST00000508788.5:n.414T>G
ENST00000509514.5:c.-373T>G	ENSP00000426272.1:n.-373T>G
ENST00000510025.5:c.440T>G	ENSP00000424940.1:p.Leu147Arg
ENST00000512644.1:n.80T>G
ENST00000512841.5:n.560T>G
ENST00000513628.5:c.101T>G	ENSP00000425993.1:p.Leu34Arg
ENST00000515235.6:n.572T>G
ENST00000515320.5:c.458T>G	ENSP00000424613.1:p.Leu153Arg
NM_000414.3:c.512T>G	NP_000405.1:p.Leu171Arg
NM_001199291.2:c.587T>G	NP_001186220.1:p.Leu196Arg
NM_001199292.1:c.458T>G	NP_001186221.1:p.Leu153Arg
NM_001292027.1:c.440T>G	NP_001278956.1:p.Leu147Arg
NM_001292028.1:c.92T>G	NP_001278957.1:p.Leu31Arg
NM_000414.4:c.512T>G MANE Select	NP_000405.1:p.Leu171Arg
NM_001199291.3:c.587T>G	NP_001186220.1:p.Leu196Arg
NM_001199292.2:c.458T>G	NP_001186221.1:p.Leu153Arg
NM_001292027.2:c.440T>G	NP_001278956.1:p.Leu147Arg
NM_001292028.2:c.92T>G	NP_001278957.1:p.Leu31Arg
NM_001374497.1:c.503T>G	NP_001361426.1:p.Leu168Arg
NM_001374498.1:c.512T>G	NP_001361427.1:p.Leu171Arg
NM_001374499.1:c.185T>G	NP_001361428.1:p.Leu62Arg
NM_001374500.1:c.71T>G	NP_001361429.1:p.Leu24Arg
NM_001374501.1:c.101T>G	NP_001361430.1:p.Leu34Arg
NM_001374502.1:c.101T>G	NP_001361431.1:p.Leu34Arg
NM_001374503.1:c.101T>G	NP_001361432.1:p.Leu34Arg
NR_164653.1:n.591T>G
NR_164654.1:n.779T>G