Canonical Allele Identifier: CA360866305

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814644A>T (hg19) ; chr5:g.119478949A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478949A>T , CM000667.2:g.119478949A>T	GRCh38
NC_000005.9:g.118814644A>T , CM000667.1:g.118814644A>T	GRCh37
NC_000005.8:g.118842543A>T	NCBI36
NG_008182.1:g.31497A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.550A>T	ENSP00000426272.2:p.Lys184Ter
ENST00000518349.6:c.113-17594A>T	ENSP00000507185.1:n.113-17594A>T
ENST00000682445.1:c.*431A>T	ENSP00000508061.1:n.*431A>T
ENST00000682531.1:n.651A>T
ENST00000682626.1:c.*56A>T	ENSP00000507857.1:n.*56A>T
ENST00000682996.1:c.550A>T	ENSP00000507792.1:p.Lys184Ter
ENST00000683265.1:n.643A>T
ENST00000683371.1:c.*680A>T	ENSP00000508376.1:n.*680A>T
ENST00000683390.1:n.2240A>T
ENST00000683549.1:n.471A>T
ENST00000683936.1:c.*435A>T	ENSP00000507721.1:n.*435A>T
ENST00000683974.1:n.632A>T
ENST00000683996.1:c.139A>T	ENSP00000507060.1:p.Lys47Ter
ENST00000684131.1:n.389A>T
ENST00000684160.1:c.*240A>T	ENSP00000507821.1:n.*240A>T
ENST00000684214.1:c.550A>T	ENSP00000508071.1:p.Lys184Ter
ENST00000414835.7:c.625A>T	ENSP00000411960.3:p.Lys209Ter
ENST00000510025.7:c.550A>T MANE Select	ENSP00000424940.3:p.Lys184Ter
ENST00000643250.1:c.*422A>T	ENSP00000494737.1:n.*422A>T
ENST00000644146.1:c.*128A>T	ENSP00000494808.1:n.*128A>T
ENST00000645099.1:c.109A>T	ENSP00000496091.1:p.Lys37Ter
ENST00000645702.1:c.139A>T	ENSP00000496432.1:p.Lys47Ter
ENST00000645832.1:c.*435A>T	ENSP00000494316.1:n.*435A>T
ENST00000646058.1:c.550A>T	ENSP00000493579.1:p.Lys184Ter
ENST00000646355.1:c.*556A>T	ENSP00000493801.1:n.*556A>T
ENST00000646554.1:c.*528A>T	ENSP00000494542.1:n.*528A>T
ENST00000647335.1:c.*517A>T	ENSP00000495180.1:n.*517A>T
ENST00000647342.1:c.*481A>T	ENSP00000494992.1:n.*481A>T
ENST00000256216.10:c.550A>T	ENSP00000256216.6:p.Lys184Ter
ENST00000414835.6:c.130A>T	ENSP00000411960.2:p.Lys44Ter
ENST00000442060.7:c.550A>T	ENSP00000390208.3:p.Lys184Ter
ENST00000503168.5:n.539A>T
ENST00000504811.5:c.625A>T	ENSP00000420914.1:p.Lys209Ter
ENST00000505181.5:n.253A>T
ENST00000509514.5:c.-335A>T	ENSP00000426272.1:n.-335A>T
ENST00000510025.5:c.478A>T	ENSP00000424940.1:p.Lys160Ter
ENST00000512644.1:n.118A>T
ENST00000513628.5:c.139A>T	ENSP00000425993.1:p.Lys47Ter
ENST00000515235.6:n.610A>T
ENST00000515320.5:c.496A>T	ENSP00000424613.1:p.Lys166Ter
NM_000414.3:c.550A>T	NP_000405.1:p.Lys184Ter
NM_001199291.2:c.625A>T	NP_001186220.1:p.Lys209Ter
NM_001199292.1:c.496A>T	NP_001186221.1:p.Lys166Ter
NM_001292027.1:c.478A>T	NP_001278956.1:p.Lys160Ter
NM_001292028.1:c.130A>T	NP_001278957.1:p.Lys44Ter
NM_000414.4:c.550A>T MANE Select	NP_000405.1:p.Lys184Ter
NM_001199291.3:c.625A>T	NP_001186220.1:p.Lys209Ter
NM_001199292.2:c.496A>T	NP_001186221.1:p.Lys166Ter
NM_001292027.2:c.478A>T	NP_001278956.1:p.Lys160Ter
NM_001292028.2:c.130A>T	NP_001278957.1:p.Lys44Ter
NM_001374497.1:c.541A>T	NP_001361426.1:p.Lys181Ter
NM_001374498.1:c.550A>T	NP_001361427.1:p.Lys184Ter
NM_001374499.1:c.223A>T	NP_001361428.1:p.Lys75Ter
NM_001374500.1:c.109A>T	NP_001361429.1:p.Lys37Ter
NM_001374501.1:c.139A>T	NP_001361430.1:p.Lys47Ter
NM_001374502.1:c.139A>T	NP_001361431.1:p.Lys47Ter
NM_001374503.1:c.139A>T	NP_001361432.1:p.Lys47Ter
NR_164653.1:n.629A>T
NR_164654.1:n.817A>T