Canonical Allele Identifier: CA1577044232
Community Standard Title: NM_000414.4(HSD17B4):c.1628G= (p.Arg543=)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119525971G= , CM000667.2:g.119525971G= GRCh38
NC_000005.9:g.118861666G= , CM000667.1:g.118861666G= GRCh37
NC_000005.8:g.118889565G= NCBI36
NG_008182.1:g.78519G=

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.1628G= MANE Select NP_000405.1:p.Arg543=
ENST00000510025.7:c.1628G= MANE Select ENSP00000424940.3:p.Arg543=
NM_000414.3:c.1628G= NP_000405.1:p.Arg543=
NM_001199291.2:c.1703G= NP_001186220.1:p.Arg568=
NM_001199291.3:c.1703G= NP_001186220.1:p.Arg568=
NM_001199292.1:c.1574G= NP_001186221.1:p.Arg525=
NM_001199292.2:c.1574G= NP_001186221.1:p.Arg525=
NM_001292027.1:c.1556G= NP_001278956.1:p.Arg519=
NM_001292027.2:c.1556G= NP_001278956.1:p.Arg519=
NM_001292028.1:c.1208G= NP_001278957.1:p.Arg403=
NM_001292028.2:c.1208G= NP_001278957.1:p.Arg403=
NM_001374497.1:c.1619G= NP_001361426.1:p.Arg540=
NM_001374498.1:c.1556G= NP_001361427.1:p.Arg519=
NM_001374499.1:c.1301G= NP_001361428.1:p.Arg434=
NM_001374500.1:c.1187G= NP_001361429.1:p.Arg396=
NM_001374501.1:c.1217G= NP_001361430.1:p.Arg406=
NM_001374502.1:c.1217G= NP_001361431.1:p.Arg406=
NM_001374503.1:c.1217G= NP_001361432.1:p.Arg406=
NR_164653.1:n.1725G=
NR_164654.1:n.1993G=
ENST00000256216.10:c.1628G= ENSP00000256216.6:p.Arg543=
ENST00000414835.6:c.1208G= ENSP00000411960.2:p.Arg403=
ENST00000414835.7:c.1703G= ENSP00000411960.3:p.Arg568=
ENST00000442060.7:c.*190G= ENSP00000390208.3:n.*190G=
ENST00000504811.5:c.1703G= ENSP00000420914.1:p.Arg568=
ENST00000507353.1:n.236G=
ENST00000509514.5:c.842G= ENSP00000426272.1:p.Arg281=
ENST00000509514.6:c.1559G= ENSP00000426272.2:p.Arg520=
ENST00000509951.5:n.83G=
ENST00000510025.5:c.1556G= ENSP00000424940.1:p.Arg519=
ENST00000513628.5:c.1217G= ENSP00000425993.1:p.Arg406=
ENST00000515235.6:n.3381G=
ENST00000515320.5:c.1574G= ENSP00000424613.1:p.Arg525=
ENST00000518349.5:n.762G=
ENST00000518349.6:c.872G= ENSP00000507185.1:p.Arg291=
ENST00000520244.5:n.411G=
ENST00000520244.6:n.3366G=
ENST00000522415.5:n.295G=
ENST00000643250.1:c.*1500G= ENSP00000494737.1:n.*1500G=
ENST00000644146.1:c.*2899G= ENSP00000494808.1:n.*2899G=
ENST00000645099.1:c.1187G= ENSP00000496091.1:p.Arg396=
ENST00000645702.1:c.*1031G= ENSP00000496432.1:n.*1031G=
ENST00000645832.1:c.*1513G= ENSP00000494316.1:n.*1513G=
ENST00000646058.1:c.1628G= ENSP00000493579.1:p.Arg543=
ENST00000646355.1:c.*1634G= ENSP00000493801.1:n.*1634G=
ENST00000646554.1:c.*1606G= ENSP00000494542.1:n.*1606G=
ENST00000647335.1:c.*1595G= ENSP00000495180.1:n.*1595G=
ENST00000647342.1:c.*1559G= ENSP00000494992.1:n.*1559G=
ENST00000682445.1:c.*1509G= ENSP00000508061.1:n.*1509G=
ENST00000682531.1:n.3520G=
ENST00000682626.1:c.*1134G= ENSP00000507857.1:n.*1134G=
ENST00000682996.1:c.1556G= ENSP00000507792.1:p.Arg519=
ENST00000683265.1:n.3414G=
ENST00000683335.1:n.3030G=
ENST00000683371.1:c.*1758G= ENSP00000508376.1:n.*1758G=
ENST00000683372.1:n.3638G=
ENST00000683390.1:n.3318G=
ENST00000683476.1:n.470G=
ENST00000683549.1:n.3242G=
ENST00000683936.1:c.*3206G= ENSP00000507721.1:n.*3206G=
ENST00000683974.1:n.3357G=
ENST00000683996.1:c.*838G= ENSP00000507060.1:n.*838G=
ENST00000684131.1:n.3160G=
ENST00000684160.1:c.*1318G= ENSP00000507821.1:n.*1318G=
ENST00000684214.1:c.1628G= ENSP00000508071.1:p.Arg543=