Canonical Allele Identifier: CA360866295

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814639G>T (hg19) ; chr5:g.119478944G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478944G>T , CM000667.2:g.119478944G>T	GRCh38
NC_000005.9:g.118814639G>T , CM000667.1:g.118814639G>T	GRCh37
NC_000005.8:g.118842538G>T	NCBI36
NG_008182.1:g.31492G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.545G>T	ENSP00000426272.2:p.Gly182Val
ENST00000518349.6:c.113-17599G>T	ENSP00000507185.1:n.113-17599G>T
ENST00000682445.1:c.*426G>T	ENSP00000508061.1:n.*426G>T
ENST00000682531.1:n.646G>T
ENST00000682626.1:c.*51G>T	ENSP00000507857.1:n.*51G>T
ENST00000682996.1:c.545G>T	ENSP00000507792.1:p.Gly182Val
ENST00000683265.1:n.638G>T
ENST00000683371.1:c.*675G>T	ENSP00000508376.1:n.*675G>T
ENST00000683390.1:n.2235G>T
ENST00000683549.1:n.466G>T
ENST00000683936.1:c.*430G>T	ENSP00000507721.1:n.*430G>T
ENST00000683974.1:n.627G>T
ENST00000683996.1:c.134G>T	ENSP00000507060.1:p.Gly45Val
ENST00000684131.1:n.384G>T
ENST00000684160.1:c.*235G>T	ENSP00000507821.1:n.*235G>T
ENST00000684214.1:c.545G>T	ENSP00000508071.1:p.Gly182Val
ENST00000414835.7:c.620G>T	ENSP00000411960.3:p.Gly207Val
ENST00000510025.7:c.545G>T MANE Select	ENSP00000424940.3:p.Gly182Val
ENST00000643250.1:c.*417G>T	ENSP00000494737.1:n.*417G>T
ENST00000644146.1:c.*123G>T	ENSP00000494808.1:n.*123G>T
ENST00000645099.1:c.104G>T	ENSP00000496091.1:p.Gly35Val
ENST00000645702.1:c.134G>T	ENSP00000496432.1:p.Gly45Val
ENST00000645832.1:c.*430G>T	ENSP00000494316.1:n.*430G>T
ENST00000646058.1:c.545G>T	ENSP00000493579.1:p.Gly182Val
ENST00000646355.1:c.*551G>T	ENSP00000493801.1:n.*551G>T
ENST00000646554.1:c.*523G>T	ENSP00000494542.1:n.*523G>T
ENST00000647335.1:c.*512G>T	ENSP00000495180.1:n.*512G>T
ENST00000647342.1:c.*476G>T	ENSP00000494992.1:n.*476G>T
ENST00000256216.10:c.545G>T	ENSP00000256216.6:p.Gly182Val
ENST00000414835.6:c.125G>T	ENSP00000411960.2:p.Gly42Val
ENST00000442060.7:c.545G>T	ENSP00000390208.3:p.Gly182Val
ENST00000503168.5:n.534G>T
ENST00000504811.5:c.620G>T	ENSP00000420914.1:p.Gly207Val
ENST00000505181.5:n.248G>T
ENST00000509514.5:c.-340G>T	ENSP00000426272.1:n.-340G>T
ENST00000510025.5:c.473G>T	ENSP00000424940.1:p.Gly158Val
ENST00000512644.1:n.113G>T
ENST00000513628.5:c.134G>T	ENSP00000425993.1:p.Gly45Val
ENST00000515235.6:n.605G>T
ENST00000515320.5:c.491G>T	ENSP00000424613.1:p.Gly164Val
NM_000414.3:c.545G>T	NP_000405.1:p.Gly182Val
NM_001199291.2:c.620G>T	NP_001186220.1:p.Gly207Val
NM_001199292.1:c.491G>T	NP_001186221.1:p.Gly164Val
NM_001292027.1:c.473G>T	NP_001278956.1:p.Gly158Val
NM_001292028.1:c.125G>T	NP_001278957.1:p.Gly42Val
NM_000414.4:c.545G>T MANE Select	NP_000405.1:p.Gly182Val
NM_001199291.3:c.620G>T	NP_001186220.1:p.Gly207Val
NM_001199292.2:c.491G>T	NP_001186221.1:p.Gly164Val
NM_001292027.2:c.473G>T	NP_001278956.1:p.Gly158Val
NM_001292028.2:c.125G>T	NP_001278957.1:p.Gly42Val
NM_001374497.1:c.536G>T	NP_001361426.1:p.Gly179Val
NM_001374498.1:c.545G>T	NP_001361427.1:p.Gly182Val
NM_001374499.1:c.218G>T	NP_001361428.1:p.Gly73Val
NM_001374500.1:c.104G>T	NP_001361429.1:p.Gly35Val
NM_001374501.1:c.134G>T	NP_001361430.1:p.Gly45Val
NM_001374502.1:c.134G>T	NP_001361431.1:p.Gly45Val
NM_001374503.1:c.134G>T	NP_001361432.1:p.Gly45Val
NR_164653.1:n.624G>T
NR_164654.1:n.812G>T