Canonical Allele Identifier: CA360866454

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814715A>T (hg19) ; chr5:g.119479020A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479020A>T , CM000667.2:g.119479020A>T	GRCh38
NC_000005.9:g.118814715A>T , CM000667.1:g.118814715A>T	GRCh37
NC_000005.8:g.118842614A>T	NCBI36
NG_008182.1:g.31568A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.621A>T	ENSP00000426272.2:p.Glu207Asp
ENST00000518349.6:c.113-17523A>T	ENSP00000507185.1:n.113-17523A>T
ENST00000682445.1:c.*502A>T	ENSP00000508061.1:n.*502A>T
ENST00000682531.1:n.722A>T
ENST00000682626.1:c.*127A>T	ENSP00000507857.1:n.*127A>T
ENST00000682996.1:c.621A>T	ENSP00000507792.1:p.Glu207Asp
ENST00000683265.1:n.714A>T
ENST00000683371.1:c.*751A>T	ENSP00000508376.1:n.*751A>T
ENST00000683390.1:n.2311A>T
ENST00000683549.1:n.542A>T
ENST00000683936.1:c.*506A>T	ENSP00000507721.1:n.*506A>T
ENST00000683974.1:n.703A>T
ENST00000683996.1:c.210A>T	ENSP00000507060.1:p.Glu70Asp
ENST00000684131.1:n.460A>T
ENST00000684160.1:c.*311A>T	ENSP00000507821.1:n.*311A>T
ENST00000684214.1:c.621A>T	ENSP00000508071.1:p.Glu207Asp
ENST00000414835.7:c.696A>T	ENSP00000411960.3:p.Glu232Asp
ENST00000510025.7:c.621A>T MANE Select	ENSP00000424940.3:p.Glu207Asp
ENST00000643250.1:c.*493A>T	ENSP00000494737.1:n.*493A>T
ENST00000644146.1:c.*199A>T	ENSP00000494808.1:n.*199A>T
ENST00000645099.1:c.180A>T	ENSP00000496091.1:p.Glu60Asp
ENST00000645702.1:c.210A>T	ENSP00000496432.1:p.Glu70Asp
ENST00000645832.1:c.*506A>T	ENSP00000494316.1:n.*506A>T
ENST00000646058.1:c.621A>T	ENSP00000493579.1:p.Glu207Asp
ENST00000646355.1:c.*627A>T	ENSP00000493801.1:n.*627A>T
ENST00000646554.1:c.*599A>T	ENSP00000494542.1:n.*599A>T
ENST00000647335.1:c.*588A>T	ENSP00000495180.1:n.*588A>T
ENST00000647342.1:c.*552A>T	ENSP00000494992.1:n.*552A>T
ENST00000256216.10:c.621A>T	ENSP00000256216.6:p.Glu207Asp
ENST00000414835.6:c.201A>T	ENSP00000411960.2:p.Glu67Asp
ENST00000442060.7:c.621A>T	ENSP00000390208.3:p.Glu207Asp
ENST00000504811.5:c.696A>T	ENSP00000420914.1:p.Glu232Asp
ENST00000505181.5:n.324A>T
ENST00000509514.5:c.-264A>T	ENSP00000426272.1:n.-264A>T
ENST00000510025.5:c.549A>T	ENSP00000424940.1:p.Glu183Asp
ENST00000512644.1:n.189A>T
ENST00000513628.5:c.210A>T	ENSP00000425993.1:p.Glu70Asp
ENST00000515235.6:n.681A>T
ENST00000515320.5:c.567A>T	ENSP00000424613.1:p.Glu189Asp
NM_000414.3:c.621A>T	NP_000405.1:p.Glu207Asp
NM_001199291.2:c.696A>T	NP_001186220.1:p.Glu232Asp
NM_001199292.1:c.567A>T	NP_001186221.1:p.Glu189Asp
NM_001292027.1:c.549A>T	NP_001278956.1:p.Glu183Asp
NM_001292028.1:c.201A>T	NP_001278957.1:p.Glu67Asp
NM_000414.4:c.621A>T MANE Select	NP_000405.1:p.Glu207Asp
NM_001199291.3:c.696A>T	NP_001186220.1:p.Glu232Asp
NM_001199292.2:c.567A>T	NP_001186221.1:p.Glu189Asp
NM_001292027.2:c.549A>T	NP_001278956.1:p.Glu183Asp
NM_001292028.2:c.201A>T	NP_001278957.1:p.Glu67Asp
NM_001374497.1:c.612A>T	NP_001361426.1:p.Glu204Asp
NM_001374498.1:c.621A>T	NP_001361427.1:p.Glu207Asp
NM_001374499.1:c.294A>T	NP_001361428.1:p.Glu98Asp
NM_001374500.1:c.180A>T	NP_001361429.1:p.Glu60Asp
NM_001374501.1:c.210A>T	NP_001361430.1:p.Glu70Asp
NM_001374502.1:c.210A>T	NP_001361431.1:p.Glu70Asp
NM_001374503.1:c.210A>T	NP_001361432.1:p.Glu70Asp
NR_164653.1:n.700A>T
NR_164654.1:n.888A>T