Canonical Allele Identifier: CA360866367

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814672C>T (hg19) ; chr5:g.119478977C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478977C>T , CM000667.2:g.119478977C>T	GRCh38
NC_000005.9:g.118814672C>T , CM000667.1:g.118814672C>T	GRCh37
NC_000005.8:g.118842571C>T	NCBI36
NG_008182.1:g.31525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.578C>T	ENSP00000426272.2:p.Ala193Val
ENST00000518349.6:c.113-17566C>T	ENSP00000507185.1:n.113-17566C>T
ENST00000682445.1:c.*459C>T	ENSP00000508061.1:n.*459C>T
ENST00000682531.1:n.679C>T
ENST00000682626.1:c.*84C>T	ENSP00000507857.1:n.*84C>T
ENST00000682996.1:c.578C>T	ENSP00000507792.1:p.Ala193Val
ENST00000683265.1:n.671C>T
ENST00000683371.1:c.*708C>T	ENSP00000508376.1:n.*708C>T
ENST00000683390.1:n.2268C>T
ENST00000683549.1:n.499C>T
ENST00000683936.1:c.*463C>T	ENSP00000507721.1:n.*463C>T
ENST00000683974.1:n.660C>T
ENST00000683996.1:c.167C>T	ENSP00000507060.1:p.Ala56Val
ENST00000684131.1:n.417C>T
ENST00000684160.1:c.*268C>T	ENSP00000507821.1:n.*268C>T
ENST00000684214.1:c.578C>T	ENSP00000508071.1:p.Ala193Val
ENST00000414835.7:c.653C>T	ENSP00000411960.3:p.Ala218Val
ENST00000510025.7:c.578C>T MANE Select	ENSP00000424940.3:p.Ala193Val
ENST00000643250.1:c.*450C>T	ENSP00000494737.1:n.*450C>T
ENST00000644146.1:c.*156C>T	ENSP00000494808.1:n.*156C>T
ENST00000645099.1:c.137C>T	ENSP00000496091.1:p.Ala46Val
ENST00000645702.1:c.167C>T	ENSP00000496432.1:p.Ala56Val
ENST00000645832.1:c.*463C>T	ENSP00000494316.1:n.*463C>T
ENST00000646058.1:c.578C>T	ENSP00000493579.1:p.Ala193Val
ENST00000646355.1:c.*584C>T	ENSP00000493801.1:n.*584C>T
ENST00000646554.1:c.*556C>T	ENSP00000494542.1:n.*556C>T
ENST00000647335.1:c.*545C>T	ENSP00000495180.1:n.*545C>T
ENST00000647342.1:c.*509C>T	ENSP00000494992.1:n.*509C>T
ENST00000256216.10:c.578C>T	ENSP00000256216.6:p.Ala193Val
ENST00000414835.6:c.158C>T	ENSP00000411960.2:p.Ala53Val
ENST00000442060.7:c.578C>T	ENSP00000390208.3:p.Ala193Val
ENST00000503168.5:n.567C>T
ENST00000504811.5:c.653C>T	ENSP00000420914.1:p.Ala218Val
ENST00000505181.5:n.281C>T
ENST00000509514.5:c.-307C>T	ENSP00000426272.1:n.-307C>T
ENST00000510025.5:c.506C>T	ENSP00000424940.1:p.Ala169Val
ENST00000512644.1:n.146C>T
ENST00000513628.5:c.167C>T	ENSP00000425993.1:p.Ala56Val
ENST00000515235.6:n.638C>T
ENST00000515320.5:c.524C>T	ENSP00000424613.1:p.Ala175Val
NM_000414.3:c.578C>T	NP_000405.1:p.Ala193Val
NM_001199291.2:c.653C>T	NP_001186220.1:p.Ala218Val
NM_001199292.1:c.524C>T	NP_001186221.1:p.Ala175Val
NM_001292027.1:c.506C>T	NP_001278956.1:p.Ala169Val
NM_001292028.1:c.158C>T	NP_001278957.1:p.Ala53Val
NM_000414.4:c.578C>T MANE Select	NP_000405.1:p.Ala193Val
NM_001199291.3:c.653C>T	NP_001186220.1:p.Ala218Val
NM_001199292.2:c.524C>T	NP_001186221.1:p.Ala175Val
NM_001292027.2:c.506C>T	NP_001278956.1:p.Ala169Val
NM_001292028.2:c.158C>T	NP_001278957.1:p.Ala53Val
NM_001374497.1:c.569C>T	NP_001361426.1:p.Ala190Val
NM_001374498.1:c.578C>T	NP_001361427.1:p.Ala193Val
NM_001374499.1:c.251C>T	NP_001361428.1:p.Ala84Val
NM_001374500.1:c.137C>T	NP_001361429.1:p.Ala46Val
NM_001374501.1:c.167C>T	NP_001361430.1:p.Ala56Val
NM_001374502.1:c.167C>T	NP_001361431.1:p.Ala56Val
NM_001374503.1:c.167C>T	NP_001361432.1:p.Ala56Val
NR_164653.1:n.657C>T
NR_164654.1:n.845C>T