Canonical Allele Identifier: CA3382364
Community Standard Title: NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119527137G>A , CM000667.2:g.119527137G>A GRCh38
NC_000005.9:g.118862832G>A , CM000667.1:g.118862832G>A GRCh37
NC_000005.8:g.118890731G>A NCBI36
NG_008182.1:g.79685G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.1685G>A MANE Select NP_000405.1:p.Arg562His
ENST00000510025.7:c.1685G>A MANE Select ENSP00000424940.3:p.Arg562His
NM_000414.3:c.1685G>A NP_000405.1:p.Arg562His
NM_001199291.2:c.1760G>A NP_001186220.1:p.Arg587His
NM_001199291.3:c.1760G>A NP_001186220.1:p.Arg587His
NM_001199292.1:c.1631G>A NP_001186221.1:p.Arg544His
NM_001199292.2:c.1631G>A NP_001186221.1:p.Arg544His
NM_001292027.1:c.1613G>A NP_001278956.1:p.Arg538His
NM_001292027.2:c.1613G>A NP_001278956.1:p.Arg538His
NM_001292028.1:c.1265G>A NP_001278957.1:p.Arg422His
NM_001292028.2:c.1265G>A NP_001278957.1:p.Arg422His
NM_001374497.1:c.1676G>A NP_001361426.1:p.Arg559His
NM_001374498.1:c.1613G>A NP_001361427.1:p.Arg538His
NM_001374499.1:c.1358G>A NP_001361428.1:p.Arg453His
NM_001374500.1:c.1244G>A NP_001361429.1:p.Arg415His
NM_001374501.1:c.1274G>A NP_001361430.1:p.Arg425His
NM_001374502.1:c.1274G>A NP_001361431.1:p.Arg425His
NM_001374503.1:c.1274G>A NP_001361432.1:p.Arg425His
NR_164653.1:n.1782G>A
NR_164654.1:n.2050G>A
ENST00000256216.10:c.1685G>A ENSP00000256216.6:p.Arg562His
ENST00000414835.6:c.1265G>A ENSP00000411960.2:p.Arg422His
ENST00000414835.7:c.1760G>A ENSP00000411960.3:p.Arg587His
ENST00000442060.7:c.*247G>A ENSP00000390208.3:n.*247G>A
ENST00000504811.5:c.1760G>A ENSP00000420914.1:p.Arg587His
ENST00000507353.1:n.293G>A
ENST00000509514.5:c.899G>A ENSP00000426272.1:p.Arg300His
ENST00000509514.6:c.1616G>A ENSP00000426272.2:p.Arg539His
ENST00000509951.5:n.140G>A
ENST00000510025.5:c.1613G>A ENSP00000424940.1:p.Arg538His
ENST00000513628.5:c.1274G>A ENSP00000425993.1:p.Arg425His
ENST00000515235.6:n.3438G>A
ENST00000515320.5:c.1631G>A ENSP00000424613.1:p.Arg544His
ENST00000518349.6:c.929G>A ENSP00000507185.1:p.Arg310His
ENST00000520244.6:n.3423G>A
ENST00000522415.5:n.352G>A
ENST00000643250.1:c.*1557G>A ENSP00000494737.1:n.*1557G>A
ENST00000644146.1:c.*2956G>A ENSP00000494808.1:n.*2956G>A
ENST00000645099.1:c.1244G>A ENSP00000496091.1:p.Arg415His
ENST00000645702.1:c.*1088G>A ENSP00000496432.1:n.*1088G>A
ENST00000645832.1:c.*1570G>A ENSP00000494316.1:n.*1570G>A
ENST00000646058.1:c.1685G>A ENSP00000493579.1:p.Arg562His
ENST00000646355.1:c.*1691G>A ENSP00000493801.1:n.*1691G>A
ENST00000646554.1:c.*1663G>A ENSP00000494542.1:n.*1663G>A
ENST00000647335.1:c.*1652G>A ENSP00000495180.1:n.*1652G>A
ENST00000647342.1:c.*1616G>A ENSP00000494992.1:n.*1616G>A
ENST00000682445.1:c.*1566G>A ENSP00000508061.1:n.*1566G>A
ENST00000682531.1:n.3577G>A
ENST00000682626.1:c.*1191G>A ENSP00000507857.1:n.*1191G>A
ENST00000682996.1:c.1613G>A ENSP00000507792.1:p.Arg538His
ENST00000683265.1:n.3471G>A
ENST00000683335.1:n.3087G>A
ENST00000683371.1:c.*1815G>A ENSP00000508376.1:n.*1815G>A
ENST00000683372.1:n.3695G>A
ENST00000683390.1:n.3375G>A
ENST00000683476.1:n.527G>A
ENST00000683549.1:n.3299G>A
ENST00000683936.1:c.*3263G>A ENSP00000507721.1:n.*3263G>A
ENST00000683974.1:n.3414G>A
ENST00000683996.1:c.*895G>A ENSP00000507060.1:n.*895G>A
ENST00000684131.1:n.3217G>A
ENST00000684160.1:c.*1375G>A ENSP00000507821.1:n.*1375G>A
ENST00000684214.1:c.1685G>A ENSP00000508071.1:p.Arg562His