Canonical Allele Identifier: CA360866287

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814636A>G (hg19) ; chr5:g.119478941A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478941A>G , CM000667.2:g.119478941A>G	GRCh38
NC_000005.9:g.118814636A>G , CM000667.1:g.118814636A>G	GRCh37
NC_000005.8:g.118842535A>G	NCBI36
NG_008182.1:g.31489A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.542A>G	ENSP00000426272.2:p.Glu181Gly
ENST00000518349.6:c.113-17602A>G	ENSP00000507185.1:n.113-17602A>G
ENST00000682445.1:c.*423A>G	ENSP00000508061.1:n.*423A>G
ENST00000682531.1:n.643A>G
ENST00000682626.1:c.*48A>G	ENSP00000507857.1:n.*48A>G
ENST00000682996.1:c.542A>G	ENSP00000507792.1:p.Glu181Gly
ENST00000683265.1:n.635A>G
ENST00000683371.1:c.*672A>G	ENSP00000508376.1:n.*672A>G
ENST00000683390.1:n.2232A>G
ENST00000683549.1:n.463A>G
ENST00000683936.1:c.*427A>G	ENSP00000507721.1:n.*427A>G
ENST00000683974.1:n.624A>G
ENST00000683996.1:c.131A>G	ENSP00000507060.1:p.Glu44Gly
ENST00000684131.1:n.381A>G
ENST00000684160.1:c.*232A>G	ENSP00000507821.1:n.*232A>G
ENST00000684214.1:c.542A>G	ENSP00000508071.1:p.Glu181Gly
ENST00000414835.7:c.617A>G	ENSP00000411960.3:p.Glu206Gly
ENST00000510025.7:c.542A>G MANE Select	ENSP00000424940.3:p.Glu181Gly
ENST00000643250.1:c.*414A>G	ENSP00000494737.1:n.*414A>G
ENST00000644146.1:c.*120A>G	ENSP00000494808.1:n.*120A>G
ENST00000645099.1:c.101A>G	ENSP00000496091.1:p.Glu34Gly
ENST00000645702.1:c.131A>G	ENSP00000496432.1:p.Glu44Gly
ENST00000645832.1:c.*427A>G	ENSP00000494316.1:n.*427A>G
ENST00000646058.1:c.542A>G	ENSP00000493579.1:p.Glu181Gly
ENST00000646355.1:c.*548A>G	ENSP00000493801.1:n.*548A>G
ENST00000646554.1:c.*520A>G	ENSP00000494542.1:n.*520A>G
ENST00000647335.1:c.*509A>G	ENSP00000495180.1:n.*509A>G
ENST00000647342.1:c.*473A>G	ENSP00000494992.1:n.*473A>G
ENST00000256216.10:c.542A>G	ENSP00000256216.6:p.Glu181Gly
ENST00000414835.6:c.122A>G	ENSP00000411960.2:p.Glu41Gly
ENST00000442060.7:c.542A>G	ENSP00000390208.3:p.Glu181Gly
ENST00000503168.5:n.531A>G
ENST00000504811.5:c.617A>G	ENSP00000420914.1:p.Glu206Gly
ENST00000505181.5:n.245A>G
ENST00000508788.5:n.444A>G
ENST00000509514.5:c.-343A>G	ENSP00000426272.1:n.-343A>G
ENST00000510025.5:c.470A>G	ENSP00000424940.1:p.Glu157Gly
ENST00000512644.1:n.110A>G
ENST00000513628.5:c.131A>G	ENSP00000425993.1:p.Glu44Gly
ENST00000515235.6:n.602A>G
ENST00000515320.5:c.488A>G	ENSP00000424613.1:p.Glu163Gly
NM_000414.3:c.542A>G	NP_000405.1:p.Glu181Gly
NM_001199291.2:c.617A>G	NP_001186220.1:p.Glu206Gly
NM_001199292.1:c.488A>G	NP_001186221.1:p.Glu163Gly
NM_001292027.1:c.470A>G	NP_001278956.1:p.Glu157Gly
NM_001292028.1:c.122A>G	NP_001278957.1:p.Glu41Gly
NM_000414.4:c.542A>G MANE Select	NP_000405.1:p.Glu181Gly
NM_001199291.3:c.617A>G	NP_001186220.1:p.Glu206Gly
NM_001199292.2:c.488A>G	NP_001186221.1:p.Glu163Gly
NM_001292027.2:c.470A>G	NP_001278956.1:p.Glu157Gly
NM_001292028.2:c.122A>G	NP_001278957.1:p.Glu41Gly
NM_001374497.1:c.533A>G	NP_001361426.1:p.Glu178Gly
NM_001374498.1:c.542A>G	NP_001361427.1:p.Glu181Gly
NM_001374499.1:c.215A>G	NP_001361428.1:p.Glu72Gly
NM_001374500.1:c.101A>G	NP_001361429.1:p.Glu34Gly
NM_001374501.1:c.131A>G	NP_001361430.1:p.Glu44Gly
NM_001374502.1:c.131A>G	NP_001361431.1:p.Glu44Gly
NM_001374503.1:c.131A>G	NP_001361432.1:p.Glu44Gly
NR_164653.1:n.621A>G
NR_164654.1:n.809A>G