Canonical Allele Identifier: CA360866130

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814563G>T (hg19) ; chr5:g.119478868G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478868G>T , CM000667.2:g.119478868G>T	GRCh38
NC_000005.9:g.118814563G>T , CM000667.1:g.118814563G>T	GRCh37
NC_000005.8:g.118842462G>T	NCBI36
NG_008182.1:g.31416G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.469G>T	ENSP00000426272.2:p.Gly157Cys
ENST00000518349.6:c.113-17675G>T	ENSP00000507185.1:n.113-17675G>T
ENST00000682445.1:c.*350G>T	ENSP00000508061.1:n.*350G>T
ENST00000682531.1:n.570G>T
ENST00000682626.1:c.497G>T	ENSP00000507857.1:p.Trp166Leu
ENST00000682996.1:c.469G>T	ENSP00000507792.1:p.Gly157Cys
ENST00000683265.1:n.562G>T
ENST00000683371.1:c.*599G>T	ENSP00000508376.1:n.*599G>T
ENST00000683390.1:n.2159G>T
ENST00000683549.1:n.390G>T
ENST00000683936.1:c.*354G>T	ENSP00000507721.1:n.*354G>T
ENST00000683974.1:n.551G>T
ENST00000683996.1:c.58G>T	ENSP00000507060.1:p.Gly20Cys
ENST00000684131.1:n.308G>T
ENST00000684160.1:c.*159G>T	ENSP00000507821.1:n.*159G>T
ENST00000684214.1:c.469G>T	ENSP00000508071.1:p.Gly157Cys
ENST00000414835.7:c.544G>T	ENSP00000411960.3:p.Gly182Cys
ENST00000510025.7:c.469G>T MANE Select	ENSP00000424940.3:p.Gly157Cys
ENST00000643250.1:c.*341G>T	ENSP00000494737.1:n.*341G>T
ENST00000644146.1:c.*47G>T	ENSP00000494808.1:n.*47G>T
ENST00000645099.1:c.28G>T	ENSP00000496091.1:p.Gly10Cys
ENST00000645702.1:c.58G>T	ENSP00000496432.1:p.Gly20Cys
ENST00000645832.1:c.*354G>T	ENSP00000494316.1:n.*354G>T
ENST00000646058.1:c.469G>T	ENSP00000493579.1:p.Gly157Cys
ENST00000646355.1:c.*475G>T	ENSP00000493801.1:n.*475G>T
ENST00000646554.1:c.*447G>T	ENSP00000494542.1:n.*447G>T
ENST00000646590.1:c.460G>T	ENSP00000494892.1:p.Gly154Cys
ENST00000647335.1:c.*436G>T	ENSP00000495180.1:n.*436G>T
ENST00000647342.1:c.*400G>T	ENSP00000494992.1:n.*400G>T
ENST00000256216.10:c.469G>T	ENSP00000256216.6:p.Gly157Cys
ENST00000414835.6:c.49G>T	ENSP00000411960.2:p.Gly17Cys
ENST00000442060.7:c.469G>T	ENSP00000390208.3:p.Gly157Cys
ENST00000503168.5:n.458G>T
ENST00000504811.5:c.544G>T	ENSP00000420914.1:p.Gly182Cys
ENST00000505181.5:n.172G>T
ENST00000508788.5:n.371G>T
ENST00000509514.5:c.-416G>T	ENSP00000426272.1:n.-416G>T
ENST00000510025.5:c.397G>T	ENSP00000424940.1:p.Gly133Cys
ENST00000512644.1:n.37G>T
ENST00000512841.5:n.517G>T
ENST00000513628.5:c.58G>T	ENSP00000425993.1:p.Gly20Cys
ENST00000515235.6:n.529G>T
ENST00000515320.5:c.415G>T	ENSP00000424613.1:p.Gly139Cys
NM_000414.3:c.469G>T	NP_000405.1:p.Gly157Cys
NM_001199291.2:c.544G>T	NP_001186220.1:p.Gly182Cys
NM_001199292.1:c.415G>T	NP_001186221.1:p.Gly139Cys
NM_001292027.1:c.397G>T	NP_001278956.1:p.Gly133Cys
NM_001292028.1:c.49G>T	NP_001278957.1:p.Gly17Cys
NM_000414.4:c.469G>T MANE Select	NP_000405.1:p.Gly157Cys
NM_001199291.3:c.544G>T	NP_001186220.1:p.Gly182Cys
NM_001199292.2:c.415G>T	NP_001186221.1:p.Gly139Cys
NM_001292027.2:c.397G>T	NP_001278956.1:p.Gly133Cys
NM_001292028.2:c.49G>T	NP_001278957.1:p.Gly17Cys
NM_001374497.1:c.460G>T	NP_001361426.1:p.Gly154Cys
NM_001374498.1:c.469G>T	NP_001361427.1:p.Gly157Cys
NM_001374499.1:c.142G>T	NP_001361428.1:p.Gly48Cys
NM_001374500.1:c.28G>T	NP_001361429.1:p.Gly10Cys
NM_001374501.1:c.58G>T	NP_001361430.1:p.Gly20Cys
NM_001374502.1:c.58G>T	NP_001361431.1:p.Gly20Cys
NM_001374503.1:c.58G>T	NP_001361432.1:p.Gly20Cys
NR_164653.1:n.548G>T
NR_164654.1:n.736G>T