Canonical Allele Identifier: CA3382341
Community Standard Title: NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119525968G>A , CM000667.2:g.119525968G>A GRCh38
NC_000005.9:g.118861663G>A , CM000667.1:g.118861663G>A GRCh37
NC_000005.8:g.118889562G>A NCBI36
NG_008182.1:g.78516G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.1625G>A MANE Select NP_000405.1:p.Arg542Lys
ENST00000510025.7:c.1625G>A MANE Select ENSP00000424940.3:p.Arg542Lys
NM_000414.3:c.1625G>A NP_000405.1:p.Arg542Lys
NM_001199291.2:c.1700G>A NP_001186220.1:p.Arg567Lys
NM_001199291.3:c.1700G>A NP_001186220.1:p.Arg567Lys
NM_001199292.1:c.1571G>A NP_001186221.1:p.Arg524Lys
NM_001199292.2:c.1571G>A NP_001186221.1:p.Arg524Lys
NM_001292027.1:c.1553G>A NP_001278956.1:p.Arg518Lys
NM_001292027.2:c.1553G>A NP_001278956.1:p.Arg518Lys
NM_001292028.1:c.1205G>A NP_001278957.1:p.Arg402Lys
NM_001292028.2:c.1205G>A NP_001278957.1:p.Arg402Lys
NM_001374497.1:c.1616G>A NP_001361426.1:p.Arg539Lys
NM_001374498.1:c.1553G>A NP_001361427.1:p.Arg518Lys
NM_001374499.1:c.1298G>A NP_001361428.1:p.Arg433Lys
NM_001374500.1:c.1184G>A NP_001361429.1:p.Arg395Lys
NM_001374501.1:c.1214G>A NP_001361430.1:p.Arg405Lys
NM_001374502.1:c.1214G>A NP_001361431.1:p.Arg405Lys
NM_001374503.1:c.1214G>A NP_001361432.1:p.Arg405Lys
NR_164653.1:n.1722G>A
NR_164654.1:n.1990G>A
ENST00000256216.10:c.1625G>A ENSP00000256216.6:p.Arg542Lys
ENST00000414835.6:c.1205G>A ENSP00000411960.2:p.Arg402Lys
ENST00000414835.7:c.1700G>A ENSP00000411960.3:p.Arg567Lys
ENST00000442060.7:c.*187G>A ENSP00000390208.3:n.*187G>A
ENST00000504811.5:c.1700G>A ENSP00000420914.1:p.Arg567Lys
ENST00000507353.1:n.233G>A
ENST00000509514.5:c.839G>A ENSP00000426272.1:p.Arg280Lys
ENST00000509514.6:c.1556G>A ENSP00000426272.2:p.Arg519Lys
ENST00000509951.5:n.80G>A
ENST00000510025.5:c.1553G>A ENSP00000424940.1:p.Arg518Lys
ENST00000513628.5:c.1214G>A ENSP00000425993.1:p.Arg405Lys
ENST00000515235.6:n.3378G>A
ENST00000515320.5:c.1571G>A ENSP00000424613.1:p.Arg524Lys
ENST00000518349.5:n.759G>A
ENST00000518349.6:c.869G>A ENSP00000507185.1:p.Arg290Lys
ENST00000520244.5:n.408G>A
ENST00000520244.6:n.3363G>A
ENST00000522415.5:n.292G>A
ENST00000643250.1:c.*1497G>A ENSP00000494737.1:n.*1497G>A
ENST00000644146.1:c.*2896G>A ENSP00000494808.1:n.*2896G>A
ENST00000645099.1:c.1184G>A ENSP00000496091.1:p.Arg395Lys
ENST00000645702.1:c.*1028G>A ENSP00000496432.1:n.*1028G>A
ENST00000645832.1:c.*1510G>A ENSP00000494316.1:n.*1510G>A
ENST00000646058.1:c.1625G>A ENSP00000493579.1:p.Arg542Lys
ENST00000646355.1:c.*1631G>A ENSP00000493801.1:n.*1631G>A
ENST00000646554.1:c.*1603G>A ENSP00000494542.1:n.*1603G>A
ENST00000647335.1:c.*1592G>A ENSP00000495180.1:n.*1592G>A
ENST00000647342.1:c.*1556G>A ENSP00000494992.1:n.*1556G>A
ENST00000682445.1:c.*1506G>A ENSP00000508061.1:n.*1506G>A
ENST00000682531.1:n.3517G>A
ENST00000682626.1:c.*1131G>A ENSP00000507857.1:n.*1131G>A
ENST00000682996.1:c.1553G>A ENSP00000507792.1:p.Arg518Lys
ENST00000683265.1:n.3411G>A
ENST00000683335.1:n.3027G>A
ENST00000683371.1:c.*1755G>A ENSP00000508376.1:n.*1755G>A
ENST00000683372.1:n.3635G>A
ENST00000683390.1:n.3315G>A
ENST00000683476.1:n.467G>A
ENST00000683549.1:n.3239G>A
ENST00000683936.1:c.*3203G>A ENSP00000507721.1:n.*3203G>A
ENST00000683974.1:n.3354G>A
ENST00000683996.1:c.*835G>A ENSP00000507060.1:n.*835G>A
ENST00000684131.1:n.3157G>A
ENST00000684160.1:c.*1315G>A ENSP00000507821.1:n.*1315G>A
ENST00000684214.1:c.1625G>A ENSP00000508071.1:p.Arg542Lys