Canonical Allele Identifier: CA360866116

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814558T>G (hg19) ; chr5:g.119478863T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478863T>G , CM000667.2:g.119478863T>G	GRCh38
NC_000005.9:g.118814558T>G , CM000667.1:g.118814558T>G	GRCh37
NC_000005.8:g.118842457T>G	NCBI36
NG_008182.1:g.31411T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.464T>G	ENSP00000426272.2:p.Ile155Arg
ENST00000518349.6:c.113-17680T>G	ENSP00000507185.1:n.113-17680T>G
ENST00000682445.1:c.*345T>G	ENSP00000508061.1:n.*345T>G
ENST00000682531.1:n.565T>G
ENST00000682626.1:c.492T>G	ENSP00000507857.1:p.Asn164Lys
ENST00000682996.1:c.464T>G	ENSP00000507792.1:p.Ile155Arg
ENST00000683265.1:n.557T>G
ENST00000683371.1:c.*594T>G	ENSP00000508376.1:n.*594T>G
ENST00000683390.1:n.2154T>G
ENST00000683549.1:n.385T>G
ENST00000683936.1:c.*349T>G	ENSP00000507721.1:n.*349T>G
ENST00000683974.1:n.546T>G
ENST00000683996.1:c.53T>G	ENSP00000507060.1:p.Ile18Arg
ENST00000684131.1:n.303T>G
ENST00000684160.1:c.*154T>G	ENSP00000507821.1:n.*154T>G
ENST00000684214.1:c.464T>G	ENSP00000508071.1:p.Ile155Arg
ENST00000414835.7:c.539T>G	ENSP00000411960.3:p.Ile180Arg
ENST00000510025.7:c.464T>G MANE Select	ENSP00000424940.3:p.Ile155Arg
ENST00000643250.1:c.*336T>G	ENSP00000494737.1:n.*336T>G
ENST00000644146.1:c.*42T>G	ENSP00000494808.1:n.*42T>G
ENST00000645099.1:c.23T>G	ENSP00000496091.1:p.Ile8Arg
ENST00000645702.1:c.53T>G	ENSP00000496432.1:p.Ile18Arg
ENST00000645832.1:c.*349T>G	ENSP00000494316.1:n.*349T>G
ENST00000646058.1:c.464T>G	ENSP00000493579.1:p.Ile155Arg
ENST00000646355.1:c.*470T>G	ENSP00000493801.1:n.*470T>G
ENST00000646554.1:c.*442T>G	ENSP00000494542.1:n.*442T>G
ENST00000646590.1:c.455T>G	ENSP00000494892.1:p.Ile152Arg
ENST00000647335.1:c.*431T>G	ENSP00000495180.1:n.*431T>G
ENST00000647342.1:c.*395T>G	ENSP00000494992.1:n.*395T>G
ENST00000256216.10:c.464T>G	ENSP00000256216.6:p.Ile155Arg
ENST00000414835.6:c.44T>G	ENSP00000411960.2:p.Ile15Arg
ENST00000442060.7:c.464T>G	ENSP00000390208.3:p.Ile155Arg
ENST00000503168.5:n.453T>G
ENST00000504811.5:c.539T>G	ENSP00000420914.1:p.Ile180Arg
ENST00000505181.5:n.167T>G
ENST00000508788.5:n.366T>G
ENST00000509514.5:c.-421T>G	ENSP00000426272.1:n.-421T>G
ENST00000510025.5:c.392T>G	ENSP00000424940.1:p.Ile131Arg
ENST00000512644.1:n.32T>G
ENST00000512841.5:n.512T>G
ENST00000513628.5:c.53T>G	ENSP00000425993.1:p.Ile18Arg
ENST00000515235.6:n.524T>G
ENST00000515320.5:c.410T>G	ENSP00000424613.1:p.Ile137Arg
NM_000414.3:c.464T>G	NP_000405.1:p.Ile155Arg
NM_001199291.2:c.539T>G	NP_001186220.1:p.Ile180Arg
NM_001199292.1:c.410T>G	NP_001186221.1:p.Ile137Arg
NM_001292027.1:c.392T>G	NP_001278956.1:p.Ile131Arg
NM_001292028.1:c.44T>G	NP_001278957.1:p.Ile15Arg
NM_000414.4:c.464T>G MANE Select	NP_000405.1:p.Ile155Arg
NM_001199291.3:c.539T>G	NP_001186220.1:p.Ile180Arg
NM_001199292.2:c.410T>G	NP_001186221.1:p.Ile137Arg
NM_001292027.2:c.392T>G	NP_001278956.1:p.Ile131Arg
NM_001292028.2:c.44T>G	NP_001278957.1:p.Ile15Arg
NM_001374497.1:c.455T>G	NP_001361426.1:p.Ile152Arg
NM_001374498.1:c.464T>G	NP_001361427.1:p.Ile155Arg
NM_001374499.1:c.137T>G	NP_001361428.1:p.Ile46Arg
NM_001374500.1:c.23T>G	NP_001361429.1:p.Ile8Arg
NM_001374501.1:c.53T>G	NP_001361430.1:p.Ile18Arg
NM_001374502.1:c.53T>G	NP_001361431.1:p.Ile18Arg
NM_001374503.1:c.53T>G	NP_001361432.1:p.Ile18Arg
NR_164653.1:n.543T>G
NR_164654.1:n.731T>G