Canonical Allele Identifier: CA360866451

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814714A>T (hg19) ; chr5:g.119479019A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479019A>T , CM000667.2:g.119479019A>T	GRCh38
NC_000005.9:g.118814714A>T , CM000667.1:g.118814714A>T	GRCh37
NC_000005.8:g.118842613A>T	NCBI36
NG_008182.1:g.31567A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.620A>T	ENSP00000426272.2:p.Glu207Val
ENST00000518349.6:c.113-17524A>T	ENSP00000507185.1:n.113-17524A>T
ENST00000682445.1:c.*501A>T	ENSP00000508061.1:n.*501A>T
ENST00000682531.1:n.721A>T
ENST00000682626.1:c.*126A>T	ENSP00000507857.1:n.*126A>T
ENST00000682996.1:c.620A>T	ENSP00000507792.1:p.Glu207Val
ENST00000683265.1:n.713A>T
ENST00000683371.1:c.*750A>T	ENSP00000508376.1:n.*750A>T
ENST00000683390.1:n.2310A>T
ENST00000683549.1:n.541A>T
ENST00000683936.1:c.*505A>T	ENSP00000507721.1:n.*505A>T
ENST00000683974.1:n.702A>T
ENST00000683996.1:c.209A>T	ENSP00000507060.1:p.Glu70Val
ENST00000684131.1:n.459A>T
ENST00000684160.1:c.*310A>T	ENSP00000507821.1:n.*310A>T
ENST00000684214.1:c.620A>T	ENSP00000508071.1:p.Glu207Val
ENST00000414835.7:c.695A>T	ENSP00000411960.3:p.Glu232Val
ENST00000510025.7:c.620A>T MANE Select	ENSP00000424940.3:p.Glu207Val
ENST00000643250.1:c.*492A>T	ENSP00000494737.1:n.*492A>T
ENST00000644146.1:c.*198A>T	ENSP00000494808.1:n.*198A>T
ENST00000645099.1:c.179A>T	ENSP00000496091.1:p.Glu60Val
ENST00000645702.1:c.209A>T	ENSP00000496432.1:p.Glu70Val
ENST00000645832.1:c.*505A>T	ENSP00000494316.1:n.*505A>T
ENST00000646058.1:c.620A>T	ENSP00000493579.1:p.Glu207Val
ENST00000646355.1:c.*626A>T	ENSP00000493801.1:n.*626A>T
ENST00000646554.1:c.*598A>T	ENSP00000494542.1:n.*598A>T
ENST00000647335.1:c.*587A>T	ENSP00000495180.1:n.*587A>T
ENST00000647342.1:c.*551A>T	ENSP00000494992.1:n.*551A>T
ENST00000256216.10:c.620A>T	ENSP00000256216.6:p.Glu207Val
ENST00000414835.6:c.200A>T	ENSP00000411960.2:p.Glu67Val
ENST00000442060.7:c.620A>T	ENSP00000390208.3:p.Glu207Val
ENST00000504811.5:c.695A>T	ENSP00000420914.1:p.Glu232Val
ENST00000505181.5:n.323A>T
ENST00000509514.5:c.-265A>T	ENSP00000426272.1:n.-265A>T
ENST00000510025.5:c.548A>T	ENSP00000424940.1:p.Glu183Val
ENST00000512644.1:n.188A>T
ENST00000513628.5:c.209A>T	ENSP00000425993.1:p.Glu70Val
ENST00000515235.6:n.680A>T
ENST00000515320.5:c.566A>T	ENSP00000424613.1:p.Glu189Val
NM_000414.3:c.620A>T	NP_000405.1:p.Glu207Val
NM_001199291.2:c.695A>T	NP_001186220.1:p.Glu232Val
NM_001199292.1:c.566A>T	NP_001186221.1:p.Glu189Val
NM_001292027.1:c.548A>T	NP_001278956.1:p.Glu183Val
NM_001292028.1:c.200A>T	NP_001278957.1:p.Glu67Val
NM_000414.4:c.620A>T MANE Select	NP_000405.1:p.Glu207Val
NM_001199291.3:c.695A>T	NP_001186220.1:p.Glu232Val
NM_001199292.2:c.566A>T	NP_001186221.1:p.Glu189Val
NM_001292027.2:c.548A>T	NP_001278956.1:p.Glu183Val
NM_001292028.2:c.200A>T	NP_001278957.1:p.Glu67Val
NM_001374497.1:c.611A>T	NP_001361426.1:p.Glu204Val
NM_001374498.1:c.620A>T	NP_001361427.1:p.Glu207Val
NM_001374499.1:c.293A>T	NP_001361428.1:p.Glu98Val
NM_001374500.1:c.179A>T	NP_001361429.1:p.Glu60Val
NM_001374501.1:c.209A>T	NP_001361430.1:p.Glu70Val
NM_001374502.1:c.209A>T	NP_001361431.1:p.Glu70Val
NM_001374503.1:c.209A>T	NP_001361432.1:p.Glu70Val
NR_164653.1:n.699A>T
NR_164654.1:n.887A>T