Canonical Allele Identifier: CA446041569
Gene: HSD17B4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.118814685A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119478990A>T , CM000667.2:g.119478990A>T GRCh38
NC_000005.9:g.118814685A>T , CM000667.1:g.118814685A>T GRCh37
NC_000005.8:g.118842584A>T NCBI36
NG_008182.1:g.31538A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.591A>T ENSP00000426272.2:p.Gly197=
ENST00000518349.6:c.113-17553A>T ENSP00000507185.1:n.113-17553A>T
ENST00000682445.1:c.*472A>T ENSP00000508061.1:n.*472A>T
ENST00000682531.1:n.692A>T
ENST00000682626.1:c.*97A>T ENSP00000507857.1:n.*97A>T
ENST00000682996.1:c.591A>T ENSP00000507792.1:p.Gly197=
ENST00000683265.1:n.684A>T
ENST00000683371.1:c.*721A>T ENSP00000508376.1:n.*721A>T
ENST00000683390.1:n.2281A>T
ENST00000683549.1:n.512A>T
ENST00000683936.1:c.*476A>T ENSP00000507721.1:n.*476A>T
ENST00000683974.1:n.673A>T
ENST00000683996.1:c.180A>T ENSP00000507060.1:p.Gly60=
ENST00000684131.1:n.430A>T
ENST00000684160.1:c.*281A>T ENSP00000507821.1:n.*281A>T
ENST00000684214.1:c.591A>T ENSP00000508071.1:p.Gly197=
ENST00000414835.7:c.666A>T ENSP00000411960.3:p.Gly222=
ENST00000510025.7:c.591A>T MANE Select ENSP00000424940.3:p.Gly197=
ENST00000643250.1:c.*463A>T ENSP00000494737.1:n.*463A>T
ENST00000644146.1:c.*169A>T ENSP00000494808.1:n.*169A>T
ENST00000645099.1:c.150A>T ENSP00000496091.1:p.Gly50=
ENST00000645702.1:c.180A>T ENSP00000496432.1:p.Gly60=
ENST00000645832.1:c.*476A>T ENSP00000494316.1:n.*476A>T
ENST00000646058.1:c.591A>T ENSP00000493579.1:p.Gly197=
ENST00000646355.1:c.*597A>T ENSP00000493801.1:n.*597A>T
ENST00000646554.1:c.*569A>T ENSP00000494542.1:n.*569A>T
ENST00000647335.1:c.*558A>T ENSP00000495180.1:n.*558A>T
ENST00000647342.1:c.*522A>T ENSP00000494992.1:n.*522A>T
ENST00000256216.10:c.591A>T ENSP00000256216.6:p.Gly197=
ENST00000414835.6:c.171A>T ENSP00000411960.2:p.Gly57=
ENST00000442060.7:c.591A>T ENSP00000390208.3:p.Gly197=
ENST00000503168.5:n.580A>T
ENST00000504811.5:c.666A>T ENSP00000420914.1:p.Gly222=
ENST00000505181.5:n.294A>T
ENST00000509514.5:c.-294A>T ENSP00000426272.1:n.-294A>T
ENST00000510025.5:c.519A>T ENSP00000424940.1:p.Gly173=
ENST00000512644.1:n.159A>T
ENST00000513628.5:c.180A>T ENSP00000425993.1:p.Gly60=
ENST00000515235.6:n.651A>T
ENST00000515320.5:c.537A>T ENSP00000424613.1:p.Gly179=
NM_000414.3:c.591A>T NP_000405.1:p.Gly197=
NM_001199291.2:c.666A>T NP_001186220.1:p.Gly222=
NM_001199292.1:c.537A>T NP_001186221.1:p.Gly179=
NM_001292027.1:c.519A>T NP_001278956.1:p.Gly173=
NM_001292028.1:c.171A>T NP_001278957.1:p.Gly57=
NM_000414.4:c.591A>T MANE Select NP_000405.1:p.Gly197=
NM_001199291.3:c.666A>T NP_001186220.1:p.Gly222=
NM_001199292.2:c.537A>T NP_001186221.1:p.Gly179=
NM_001292027.2:c.519A>T NP_001278956.1:p.Gly173=
NM_001292028.2:c.171A>T NP_001278957.1:p.Gly57=
NM_001374497.1:c.582A>T NP_001361426.1:p.Gly194=
NM_001374498.1:c.591A>T NP_001361427.1:p.Gly197=
NM_001374499.1:c.264A>T NP_001361428.1:p.Gly88=
NM_001374500.1:c.150A>T NP_001361429.1:p.Gly50=
NM_001374501.1:c.180A>T NP_001361430.1:p.Gly60=
NM_001374502.1:c.180A>T NP_001361431.1:p.Gly60=
NM_001374503.1:c.180A>T NP_001361432.1:p.Gly60=
NR_164653.1:n.670A>T
NR_164654.1:n.858A>T