Canonical Allele Identifier: CA360866202

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814594C>G (hg19) ; chr5:g.119478899C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478899C>G , CM000667.2:g.119478899C>G	GRCh38
NC_000005.9:g.118814594C>G , CM000667.1:g.118814594C>G	GRCh37
NC_000005.8:g.118842493C>G	NCBI36
NG_008182.1:g.31447C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.500C>G	ENSP00000426272.2:p.Ala167Gly
ENST00000518349.6:c.113-17644C>G	ENSP00000507185.1:n.113-17644C>G
ENST00000682445.1:c.*381C>G	ENSP00000508061.1:n.*381C>G
ENST00000682531.1:n.601C>G
ENST00000682626.1:c.*6C>G	ENSP00000507857.1:n.*6C>G
ENST00000682996.1:c.500C>G	ENSP00000507792.1:p.Ala167Gly
ENST00000683265.1:n.593C>G
ENST00000683371.1:c.*630C>G	ENSP00000508376.1:n.*630C>G
ENST00000683390.1:n.2190C>G
ENST00000683549.1:n.421C>G
ENST00000683936.1:c.*385C>G	ENSP00000507721.1:n.*385C>G
ENST00000683974.1:n.582C>G
ENST00000683996.1:c.89C>G	ENSP00000507060.1:p.Ala30Gly
ENST00000684131.1:n.339C>G
ENST00000684160.1:c.*190C>G	ENSP00000507821.1:n.*190C>G
ENST00000684214.1:c.500C>G	ENSP00000508071.1:p.Ala167Gly
ENST00000414835.7:c.575C>G	ENSP00000411960.3:p.Ala192Gly
ENST00000510025.7:c.500C>G MANE Select	ENSP00000424940.3:p.Ala167Gly
ENST00000643250.1:c.*372C>G	ENSP00000494737.1:n.*372C>G
ENST00000644146.1:c.*78C>G	ENSP00000494808.1:n.*78C>G
ENST00000645099.1:c.59C>G	ENSP00000496091.1:p.Ala20Gly
ENST00000645702.1:c.89C>G	ENSP00000496432.1:p.Ala30Gly
ENST00000645832.1:c.*385C>G	ENSP00000494316.1:n.*385C>G
ENST00000646058.1:c.500C>G	ENSP00000493579.1:p.Ala167Gly
ENST00000646355.1:c.*506C>G	ENSP00000493801.1:n.*506C>G
ENST00000646554.1:c.*478C>G	ENSP00000494542.1:n.*478C>G
ENST00000646590.1:c.491C>G	ENSP00000494892.1:p.Ala164Gly
ENST00000647335.1:c.*467C>G	ENSP00000495180.1:n.*467C>G
ENST00000647342.1:c.*431C>G	ENSP00000494992.1:n.*431C>G
ENST00000256216.10:c.500C>G	ENSP00000256216.6:p.Ala167Gly
ENST00000414835.6:c.80C>G	ENSP00000411960.2:p.Ala27Gly
ENST00000442060.7:c.500C>G	ENSP00000390208.3:p.Ala167Gly
ENST00000503168.5:n.489C>G
ENST00000504811.5:c.575C>G	ENSP00000420914.1:p.Ala192Gly
ENST00000505181.5:n.203C>G
ENST00000508788.5:n.402C>G
ENST00000509514.5:c.-385C>G	ENSP00000426272.1:n.-385C>G
ENST00000510025.5:c.428C>G	ENSP00000424940.1:p.Ala143Gly
ENST00000512644.1:n.68C>G
ENST00000512841.5:n.548C>G
ENST00000513628.5:c.89C>G	ENSP00000425993.1:p.Ala30Gly
ENST00000515235.6:n.560C>G
ENST00000515320.5:c.446C>G	ENSP00000424613.1:p.Ala149Gly
NM_000414.3:c.500C>G	NP_000405.1:p.Ala167Gly
NM_001199291.2:c.575C>G	NP_001186220.1:p.Ala192Gly
NM_001199292.1:c.446C>G	NP_001186221.1:p.Ala149Gly
NM_001292027.1:c.428C>G	NP_001278956.1:p.Ala143Gly
NM_001292028.1:c.80C>G	NP_001278957.1:p.Ala27Gly
NM_000414.4:c.500C>G MANE Select	NP_000405.1:p.Ala167Gly
NM_001199291.3:c.575C>G	NP_001186220.1:p.Ala192Gly
NM_001199292.2:c.446C>G	NP_001186221.1:p.Ala149Gly
NM_001292027.2:c.428C>G	NP_001278956.1:p.Ala143Gly
NM_001292028.2:c.80C>G	NP_001278957.1:p.Ala27Gly
NM_001374497.1:c.491C>G	NP_001361426.1:p.Ala164Gly
NM_001374498.1:c.500C>G	NP_001361427.1:p.Ala167Gly
NM_001374499.1:c.173C>G	NP_001361428.1:p.Ala58Gly
NM_001374500.1:c.59C>G	NP_001361429.1:p.Ala20Gly
NM_001374501.1:c.89C>G	NP_001361430.1:p.Ala30Gly
NM_001374502.1:c.89C>G	NP_001361431.1:p.Ala30Gly
NM_001374503.1:c.89C>G	NP_001361432.1:p.Ala30Gly
NR_164653.1:n.579C>G
NR_164654.1:n.767C>G