Canonical Allele Identifier: CA360866330

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814654T>G (hg19) ; chr5:g.119478959T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478959T>G , CM000667.2:g.119478959T>G	GRCh38
NC_000005.9:g.118814654T>G , CM000667.1:g.118814654T>G	GRCh37
NC_000005.8:g.118842553T>G	NCBI36
NG_008182.1:g.31507T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.560T>G	ENSP00000426272.2:p.Ile187Ser
ENST00000518349.6:c.113-17584T>G	ENSP00000507185.1:n.113-17584T>G
ENST00000682445.1:c.*441T>G	ENSP00000508061.1:n.*441T>G
ENST00000682531.1:n.661T>G
ENST00000682626.1:c.*66T>G	ENSP00000507857.1:n.*66T>G
ENST00000682996.1:c.560T>G	ENSP00000507792.1:p.Ile187Ser
ENST00000683265.1:n.653T>G
ENST00000683371.1:c.*690T>G	ENSP00000508376.1:n.*690T>G
ENST00000683390.1:n.2250T>G
ENST00000683549.1:n.481T>G
ENST00000683936.1:c.*445T>G	ENSP00000507721.1:n.*445T>G
ENST00000683974.1:n.642T>G
ENST00000683996.1:c.149T>G	ENSP00000507060.1:p.Ile50Ser
ENST00000684131.1:n.399T>G
ENST00000684160.1:c.*250T>G	ENSP00000507821.1:n.*250T>G
ENST00000684214.1:c.560T>G	ENSP00000508071.1:p.Ile187Ser
ENST00000414835.7:c.635T>G	ENSP00000411960.3:p.Ile212Ser
ENST00000510025.7:c.560T>G MANE Select	ENSP00000424940.3:p.Ile187Ser
ENST00000643250.1:c.*432T>G	ENSP00000494737.1:n.*432T>G
ENST00000644146.1:c.*138T>G	ENSP00000494808.1:n.*138T>G
ENST00000645099.1:c.119T>G	ENSP00000496091.1:p.Ile40Ser
ENST00000645702.1:c.149T>G	ENSP00000496432.1:p.Ile50Ser
ENST00000645832.1:c.*445T>G	ENSP00000494316.1:n.*445T>G
ENST00000646058.1:c.560T>G	ENSP00000493579.1:p.Ile187Ser
ENST00000646355.1:c.*566T>G	ENSP00000493801.1:n.*566T>G
ENST00000646554.1:c.*538T>G	ENSP00000494542.1:n.*538T>G
ENST00000647335.1:c.*527T>G	ENSP00000495180.1:n.*527T>G
ENST00000647342.1:c.*491T>G	ENSP00000494992.1:n.*491T>G
ENST00000256216.10:c.560T>G	ENSP00000256216.6:p.Ile187Ser
ENST00000414835.6:c.140T>G	ENSP00000411960.2:p.Ile47Ser
ENST00000442060.7:c.560T>G	ENSP00000390208.3:p.Ile187Ser
ENST00000503168.5:n.549T>G
ENST00000504811.5:c.635T>G	ENSP00000420914.1:p.Ile212Ser
ENST00000505181.5:n.263T>G
ENST00000509514.5:c.-325T>G	ENSP00000426272.1:n.-325T>G
ENST00000510025.5:c.488T>G	ENSP00000424940.1:p.Ile163Ser
ENST00000512644.1:n.128T>G
ENST00000513628.5:c.149T>G	ENSP00000425993.1:p.Ile50Ser
ENST00000515235.6:n.620T>G
ENST00000515320.5:c.506T>G	ENSP00000424613.1:p.Ile169Ser
NM_000414.3:c.560T>G	NP_000405.1:p.Ile187Ser
NM_001199291.2:c.635T>G	NP_001186220.1:p.Ile212Ser
NM_001199292.1:c.506T>G	NP_001186221.1:p.Ile169Ser
NM_001292027.1:c.488T>G	NP_001278956.1:p.Ile163Ser
NM_001292028.1:c.140T>G	NP_001278957.1:p.Ile47Ser
NM_000414.4:c.560T>G MANE Select	NP_000405.1:p.Ile187Ser
NM_001199291.3:c.635T>G	NP_001186220.1:p.Ile212Ser
NM_001199292.2:c.506T>G	NP_001186221.1:p.Ile169Ser
NM_001292027.2:c.488T>G	NP_001278956.1:p.Ile163Ser
NM_001292028.2:c.140T>G	NP_001278957.1:p.Ile47Ser
NM_001374497.1:c.551T>G	NP_001361426.1:p.Ile184Ser
NM_001374498.1:c.560T>G	NP_001361427.1:p.Ile187Ser
NM_001374499.1:c.233T>G	NP_001361428.1:p.Ile78Ser
NM_001374500.1:c.119T>G	NP_001361429.1:p.Ile40Ser
NM_001374501.1:c.149T>G	NP_001361430.1:p.Ile50Ser
NM_001374502.1:c.149T>G	NP_001361431.1:p.Ile50Ser
NM_001374503.1:c.149T>G	NP_001361432.1:p.Ile50Ser
NR_164653.1:n.639T>G
NR_164654.1:n.827T>G