Canonical Allele Identifier: CA360866140

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814568C>A (hg19) ; chr5:g.119478873C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478873C>A , CM000667.2:g.119478873C>A	GRCh38
NC_000005.9:g.118814568C>A , CM000667.1:g.118814568C>A	GRCh37
NC_000005.8:g.118842467C>A	NCBI36
NG_008182.1:g.31421C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.474C>A	ENSP00000426272.2:p.Asn158Lys
ENST00000518349.6:c.113-17670C>A	ENSP00000507185.1:n.113-17670C>A
ENST00000682445.1:c.*355C>A	ENSP00000508061.1:n.*355C>A
ENST00000682531.1:n.575C>A
ENST00000682626.1:c.502C>A	ENSP00000507857.1:p.Leu168Ile
ENST00000682996.1:c.474C>A	ENSP00000507792.1:p.Asn158Lys
ENST00000683265.1:n.567C>A
ENST00000683371.1:c.*604C>A	ENSP00000508376.1:n.*604C>A
ENST00000683390.1:n.2164C>A
ENST00000683549.1:n.395C>A
ENST00000683936.1:c.*359C>A	ENSP00000507721.1:n.*359C>A
ENST00000683974.1:n.556C>A
ENST00000683996.1:c.63C>A	ENSP00000507060.1:p.Asn21Lys
ENST00000684131.1:n.313C>A
ENST00000684160.1:c.*164C>A	ENSP00000507821.1:n.*164C>A
ENST00000684214.1:c.474C>A	ENSP00000508071.1:p.Asn158Lys
ENST00000414835.7:c.549C>A	ENSP00000411960.3:p.Asn183Lys
ENST00000510025.7:c.474C>A MANE Select	ENSP00000424940.3:p.Asn158Lys
ENST00000643250.1:c.*346C>A	ENSP00000494737.1:n.*346C>A
ENST00000644146.1:c.*52C>A	ENSP00000494808.1:n.*52C>A
ENST00000645099.1:c.33C>A	ENSP00000496091.1:p.Asn11Lys
ENST00000645702.1:c.63C>A	ENSP00000496432.1:p.Asn21Lys
ENST00000645832.1:c.*359C>A	ENSP00000494316.1:n.*359C>A
ENST00000646058.1:c.474C>A	ENSP00000493579.1:p.Asn158Lys
ENST00000646355.1:c.*480C>A	ENSP00000493801.1:n.*480C>A
ENST00000646554.1:c.*452C>A	ENSP00000494542.1:n.*452C>A
ENST00000646590.1:c.465C>A	ENSP00000494892.1:p.Asn155Lys
ENST00000647335.1:c.*441C>A	ENSP00000495180.1:n.*441C>A
ENST00000647342.1:c.*405C>A	ENSP00000494992.1:n.*405C>A
ENST00000256216.10:c.474C>A	ENSP00000256216.6:p.Asn158Lys
ENST00000414835.6:c.54C>A	ENSP00000411960.2:p.Asn18Lys
ENST00000442060.7:c.474C>A	ENSP00000390208.3:p.Asn158Lys
ENST00000503168.5:n.463C>A
ENST00000504811.5:c.549C>A	ENSP00000420914.1:p.Asn183Lys
ENST00000505181.5:n.177C>A
ENST00000508788.5:n.376C>A
ENST00000509514.5:c.-411C>A	ENSP00000426272.1:n.-411C>A
ENST00000510025.5:c.402C>A	ENSP00000424940.1:p.Asn134Lys
ENST00000512644.1:n.42C>A
ENST00000512841.5:n.522C>A
ENST00000513628.5:c.63C>A	ENSP00000425993.1:p.Asn21Lys
ENST00000515235.6:n.534C>A
ENST00000515320.5:c.420C>A	ENSP00000424613.1:p.Asn140Lys
NM_000414.3:c.474C>A	NP_000405.1:p.Asn158Lys
NM_001199291.2:c.549C>A	NP_001186220.1:p.Asn183Lys
NM_001199292.1:c.420C>A	NP_001186221.1:p.Asn140Lys
NM_001292027.1:c.402C>A	NP_001278956.1:p.Asn134Lys
NM_001292028.1:c.54C>A	NP_001278957.1:p.Asn18Lys
NM_000414.4:c.474C>A MANE Select	NP_000405.1:p.Asn158Lys
NM_001199291.3:c.549C>A	NP_001186220.1:p.Asn183Lys
NM_001199292.2:c.420C>A	NP_001186221.1:p.Asn140Lys
NM_001292027.2:c.402C>A	NP_001278956.1:p.Asn134Lys
NM_001292028.2:c.54C>A	NP_001278957.1:p.Asn18Lys
NM_001374497.1:c.465C>A	NP_001361426.1:p.Asn155Lys
NM_001374498.1:c.474C>A	NP_001361427.1:p.Asn158Lys
NM_001374499.1:c.147C>A	NP_001361428.1:p.Asn49Lys
NM_001374500.1:c.33C>A	NP_001361429.1:p.Asn11Lys
NM_001374501.1:c.63C>A	NP_001361430.1:p.Asn21Lys
NM_001374502.1:c.63C>A	NP_001361431.1:p.Asn21Lys
NM_001374503.1:c.63C>A	NP_001361432.1:p.Asn21Lys
NR_164653.1:n.553C>A
NR_164654.1:n.741C>A