Canonical Allele Identifier: CA360866449

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814713G>T (hg19) ; chr5:g.119479018G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479018G>T , CM000667.2:g.119479018G>T	GRCh38
NC_000005.9:g.118814713G>T , CM000667.1:g.118814713G>T	GRCh37
NC_000005.8:g.118842612G>T	NCBI36
NG_008182.1:g.31566G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.619G>T	ENSP00000426272.2:p.Glu207Ter
ENST00000518349.6:c.113-17525G>T	ENSP00000507185.1:n.113-17525G>T
ENST00000682445.1:c.*500G>T	ENSP00000508061.1:n.*500G>T
ENST00000682531.1:n.720G>T
ENST00000682626.1:c.*125G>T	ENSP00000507857.1:n.*125G>T
ENST00000682996.1:c.619G>T	ENSP00000507792.1:p.Glu207Ter
ENST00000683265.1:n.712G>T
ENST00000683371.1:c.*749G>T	ENSP00000508376.1:n.*749G>T
ENST00000683390.1:n.2309G>T
ENST00000683549.1:n.540G>T
ENST00000683936.1:c.*504G>T	ENSP00000507721.1:n.*504G>T
ENST00000683974.1:n.701G>T
ENST00000683996.1:c.208G>T	ENSP00000507060.1:p.Glu70Ter
ENST00000684131.1:n.458G>T
ENST00000684160.1:c.*309G>T	ENSP00000507821.1:n.*309G>T
ENST00000684214.1:c.619G>T	ENSP00000508071.1:p.Glu207Ter
ENST00000414835.7:c.694G>T	ENSP00000411960.3:p.Glu232Ter
ENST00000510025.7:c.619G>T MANE Select	ENSP00000424940.3:p.Glu207Ter
ENST00000643250.1:c.*491G>T	ENSP00000494737.1:n.*491G>T
ENST00000644146.1:c.*197G>T	ENSP00000494808.1:n.*197G>T
ENST00000645099.1:c.178G>T	ENSP00000496091.1:p.Glu60Ter
ENST00000645702.1:c.208G>T	ENSP00000496432.1:p.Glu70Ter
ENST00000645832.1:c.*504G>T	ENSP00000494316.1:n.*504G>T
ENST00000646058.1:c.619G>T	ENSP00000493579.1:p.Glu207Ter
ENST00000646355.1:c.*625G>T	ENSP00000493801.1:n.*625G>T
ENST00000646554.1:c.*597G>T	ENSP00000494542.1:n.*597G>T
ENST00000647335.1:c.*586G>T	ENSP00000495180.1:n.*586G>T
ENST00000647342.1:c.*550G>T	ENSP00000494992.1:n.*550G>T
ENST00000256216.10:c.619G>T	ENSP00000256216.6:p.Glu207Ter
ENST00000414835.6:c.199G>T	ENSP00000411960.2:p.Glu67Ter
ENST00000442060.7:c.619G>T	ENSP00000390208.3:p.Glu207Ter
ENST00000504811.5:c.694G>T	ENSP00000420914.1:p.Glu232Ter
ENST00000505181.5:n.322G>T
ENST00000509514.5:c.-266G>T	ENSP00000426272.1:n.-266G>T
ENST00000510025.5:c.547G>T	ENSP00000424940.1:p.Glu183Ter
ENST00000512644.1:n.187G>T
ENST00000513628.5:c.208G>T	ENSP00000425993.1:p.Glu70Ter
ENST00000515235.6:n.679G>T
ENST00000515320.5:c.565G>T	ENSP00000424613.1:p.Glu189Ter
NM_000414.3:c.619G>T	NP_000405.1:p.Glu207Ter
NM_001199291.2:c.694G>T	NP_001186220.1:p.Glu232Ter
NM_001199292.1:c.565G>T	NP_001186221.1:p.Glu189Ter
NM_001292027.1:c.547G>T	NP_001278956.1:p.Glu183Ter
NM_001292028.1:c.199G>T	NP_001278957.1:p.Glu67Ter
NM_000414.4:c.619G>T MANE Select	NP_000405.1:p.Glu207Ter
NM_001199291.3:c.694G>T	NP_001186220.1:p.Glu232Ter
NM_001199292.2:c.565G>T	NP_001186221.1:p.Glu189Ter
NM_001292027.2:c.547G>T	NP_001278956.1:p.Glu183Ter
NM_001292028.2:c.199G>T	NP_001278957.1:p.Glu67Ter
NM_001374497.1:c.610G>T	NP_001361426.1:p.Glu204Ter
NM_001374498.1:c.619G>T	NP_001361427.1:p.Glu207Ter
NM_001374499.1:c.292G>T	NP_001361428.1:p.Glu98Ter
NM_001374500.1:c.178G>T	NP_001361429.1:p.Glu60Ter
NM_001374501.1:c.208G>T	NP_001361430.1:p.Glu70Ter
NM_001374502.1:c.208G>T	NP_001361431.1:p.Glu70Ter
NM_001374503.1:c.208G>T	NP_001361432.1:p.Glu70Ter
NR_164653.1:n.698G>T
NR_164654.1:n.886G>T