Canonical Allele Identifier: CA360866155

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814573G>T (hg19) ; chr5:g.119478878G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478878G>T , CM000667.2:g.119478878G>T	GRCh38
NC_000005.9:g.118814573G>T , CM000667.1:g.118814573G>T	GRCh37
NC_000005.8:g.118842472G>T	NCBI36
NG_008182.1:g.31426G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.479G>T	ENSP00000426272.2:p.Gly160Val
ENST00000518349.6:c.113-17665G>T	ENSP00000507185.1:n.113-17665G>T
ENST00000682445.1:c.*360G>T	ENSP00000508061.1:n.*360G>T
ENST00000682531.1:n.580G>T
ENST00000682626.1:c.507G>T	ENSP00000507857.1:p.Trp169Cys
ENST00000682996.1:c.479G>T	ENSP00000507792.1:p.Gly160Val
ENST00000683265.1:n.572G>T
ENST00000683371.1:c.*609G>T	ENSP00000508376.1:n.*609G>T
ENST00000683390.1:n.2169G>T
ENST00000683549.1:n.400G>T
ENST00000683936.1:c.*364G>T	ENSP00000507721.1:n.*364G>T
ENST00000683974.1:n.561G>T
ENST00000683996.1:c.68G>T	ENSP00000507060.1:p.Gly23Val
ENST00000684131.1:n.318G>T
ENST00000684160.1:c.*169G>T	ENSP00000507821.1:n.*169G>T
ENST00000684214.1:c.479G>T	ENSP00000508071.1:p.Gly160Val
ENST00000414835.7:c.554G>T	ENSP00000411960.3:p.Gly185Val
ENST00000510025.7:c.479G>T MANE Select	ENSP00000424940.3:p.Gly160Val
ENST00000643250.1:c.*351G>T	ENSP00000494737.1:n.*351G>T
ENST00000644146.1:c.*57G>T	ENSP00000494808.1:n.*57G>T
ENST00000645099.1:c.38G>T	ENSP00000496091.1:p.Gly13Val
ENST00000645702.1:c.68G>T	ENSP00000496432.1:p.Gly23Val
ENST00000645832.1:c.*364G>T	ENSP00000494316.1:n.*364G>T
ENST00000646058.1:c.479G>T	ENSP00000493579.1:p.Gly160Val
ENST00000646355.1:c.*485G>T	ENSP00000493801.1:n.*485G>T
ENST00000646554.1:c.*457G>T	ENSP00000494542.1:n.*457G>T
ENST00000646590.1:c.470G>T	ENSP00000494892.1:p.Gly157Val
ENST00000647335.1:c.*446G>T	ENSP00000495180.1:n.*446G>T
ENST00000647342.1:c.*410G>T	ENSP00000494992.1:n.*410G>T
ENST00000256216.10:c.479G>T	ENSP00000256216.6:p.Gly160Val
ENST00000414835.6:c.59G>T	ENSP00000411960.2:p.Gly20Val
ENST00000442060.7:c.479G>T	ENSP00000390208.3:p.Gly160Val
ENST00000503168.5:n.468G>T
ENST00000504811.5:c.554G>T	ENSP00000420914.1:p.Gly185Val
ENST00000505181.5:n.182G>T
ENST00000508788.5:n.381G>T
ENST00000509514.5:c.-406G>T	ENSP00000426272.1:n.-406G>T
ENST00000510025.5:c.407G>T	ENSP00000424940.1:p.Gly136Val
ENST00000512644.1:n.47G>T
ENST00000512841.5:n.527G>T
ENST00000513628.5:c.68G>T	ENSP00000425993.1:p.Gly23Val
ENST00000515235.6:n.539G>T
ENST00000515320.5:c.425G>T	ENSP00000424613.1:p.Gly142Val
NM_000414.3:c.479G>T	NP_000405.1:p.Gly160Val
NM_001199291.2:c.554G>T	NP_001186220.1:p.Gly185Val
NM_001199292.1:c.425G>T	NP_001186221.1:p.Gly142Val
NM_001292027.1:c.407G>T	NP_001278956.1:p.Gly136Val
NM_001292028.1:c.59G>T	NP_001278957.1:p.Gly20Val
NM_000414.4:c.479G>T MANE Select	NP_000405.1:p.Gly160Val
NM_001199291.3:c.554G>T	NP_001186220.1:p.Gly185Val
NM_001199292.2:c.425G>T	NP_001186221.1:p.Gly142Val
NM_001292027.2:c.407G>T	NP_001278956.1:p.Gly136Val
NM_001292028.2:c.59G>T	NP_001278957.1:p.Gly20Val
NM_001374497.1:c.470G>T	NP_001361426.1:p.Gly157Val
NM_001374498.1:c.479G>T	NP_001361427.1:p.Gly160Val
NM_001374499.1:c.152G>T	NP_001361428.1:p.Gly51Val
NM_001374500.1:c.38G>T	NP_001361429.1:p.Gly13Val
NM_001374501.1:c.68G>T	NP_001361430.1:p.Gly23Val
NM_001374502.1:c.68G>T	NP_001361431.1:p.Gly23Val
NM_001374503.1:c.68G>T	NP_001361432.1:p.Gly23Val
NR_164653.1:n.558G>T
NR_164654.1:n.746G>T