Canonical Allele Identifier: CA360866152

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814572G>T (hg19) ; chr5:g.119478877G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478877G>T , CM000667.2:g.119478877G>T	GRCh38
NC_000005.9:g.118814572G>T , CM000667.1:g.118814572G>T	GRCh37
NC_000005.8:g.118842471G>T	NCBI36
NG_008182.1:g.31425G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.478G>T	ENSP00000426272.2:p.Gly160Cys
ENST00000518349.6:c.113-17666G>T	ENSP00000507185.1:n.113-17666G>T
ENST00000682445.1:c.*359G>T	ENSP00000508061.1:n.*359G>T
ENST00000682531.1:n.579G>T
ENST00000682626.1:c.506G>T	ENSP00000507857.1:p.Trp169Leu
ENST00000682996.1:c.478G>T	ENSP00000507792.1:p.Gly160Cys
ENST00000683265.1:n.571G>T
ENST00000683371.1:c.*608G>T	ENSP00000508376.1:n.*608G>T
ENST00000683390.1:n.2168G>T
ENST00000683549.1:n.399G>T
ENST00000683936.1:c.*363G>T	ENSP00000507721.1:n.*363G>T
ENST00000683974.1:n.560G>T
ENST00000683996.1:c.67G>T	ENSP00000507060.1:p.Gly23Cys
ENST00000684131.1:n.317G>T
ENST00000684160.1:c.*168G>T	ENSP00000507821.1:n.*168G>T
ENST00000684214.1:c.478G>T	ENSP00000508071.1:p.Gly160Cys
ENST00000414835.7:c.553G>T	ENSP00000411960.3:p.Gly185Cys
ENST00000510025.7:c.478G>T MANE Select	ENSP00000424940.3:p.Gly160Cys
ENST00000643250.1:c.*350G>T	ENSP00000494737.1:n.*350G>T
ENST00000644146.1:c.*56G>T	ENSP00000494808.1:n.*56G>T
ENST00000645099.1:c.37G>T	ENSP00000496091.1:p.Gly13Cys
ENST00000645702.1:c.67G>T	ENSP00000496432.1:p.Gly23Cys
ENST00000645832.1:c.*363G>T	ENSP00000494316.1:n.*363G>T
ENST00000646058.1:c.478G>T	ENSP00000493579.1:p.Gly160Cys
ENST00000646355.1:c.*484G>T	ENSP00000493801.1:n.*484G>T
ENST00000646554.1:c.*456G>T	ENSP00000494542.1:n.*456G>T
ENST00000646590.1:c.469G>T	ENSP00000494892.1:p.Gly157Cys
ENST00000647335.1:c.*445G>T	ENSP00000495180.1:n.*445G>T
ENST00000647342.1:c.*409G>T	ENSP00000494992.1:n.*409G>T
ENST00000256216.10:c.478G>T	ENSP00000256216.6:p.Gly160Cys
ENST00000414835.6:c.58G>T	ENSP00000411960.2:p.Gly20Cys
ENST00000442060.7:c.478G>T	ENSP00000390208.3:p.Gly160Cys
ENST00000503168.5:n.467G>T
ENST00000504811.5:c.553G>T	ENSP00000420914.1:p.Gly185Cys
ENST00000505181.5:n.181G>T
ENST00000508788.5:n.380G>T
ENST00000509514.5:c.-407G>T	ENSP00000426272.1:n.-407G>T
ENST00000510025.5:c.406G>T	ENSP00000424940.1:p.Gly136Cys
ENST00000512644.1:n.46G>T
ENST00000512841.5:n.526G>T
ENST00000513628.5:c.67G>T	ENSP00000425993.1:p.Gly23Cys
ENST00000515235.6:n.538G>T
ENST00000515320.5:c.424G>T	ENSP00000424613.1:p.Gly142Cys
NM_000414.3:c.478G>T	NP_000405.1:p.Gly160Cys
NM_001199291.2:c.553G>T	NP_001186220.1:p.Gly185Cys
NM_001199292.1:c.424G>T	NP_001186221.1:p.Gly142Cys
NM_001292027.1:c.406G>T	NP_001278956.1:p.Gly136Cys
NM_001292028.1:c.58G>T	NP_001278957.1:p.Gly20Cys
NM_000414.4:c.478G>T MANE Select	NP_000405.1:p.Gly160Cys
NM_001199291.3:c.553G>T	NP_001186220.1:p.Gly185Cys
NM_001199292.2:c.424G>T	NP_001186221.1:p.Gly142Cys
NM_001292027.2:c.406G>T	NP_001278956.1:p.Gly136Cys
NM_001292028.2:c.58G>T	NP_001278957.1:p.Gly20Cys
NM_001374497.1:c.469G>T	NP_001361426.1:p.Gly157Cys
NM_001374498.1:c.478G>T	NP_001361427.1:p.Gly160Cys
NM_001374499.1:c.151G>T	NP_001361428.1:p.Gly51Cys
NM_001374500.1:c.37G>T	NP_001361429.1:p.Gly13Cys
NM_001374501.1:c.67G>T	NP_001361430.1:p.Gly23Cys
NM_001374502.1:c.67G>T	NP_001361431.1:p.Gly23Cys
NM_001374503.1:c.67G>T	NP_001361432.1:p.Gly23Cys
NR_164653.1:n.557G>T
NR_164654.1:n.745G>T