Canonical Allele Identifier: CA3382304
Community Standard Title: NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119525249C>A , CM000667.2:g.119525249C>A GRCh38
NC_000005.9:g.118860944C>A , CM000667.1:g.118860944C>A GRCh37
NC_000005.8:g.118888843C>A NCBI36
NG_008182.1:g.77797C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.1537C>A MANE Select NP_000405.1:p.Pro513Thr
ENST00000510025.7:c.1537C>A MANE Select ENSP00000424940.3:p.Pro513Thr
NM_000414.3:c.1537C>A NP_000405.1:p.Pro513Thr
NM_001199291.2:c.1612C>A NP_001186220.1:p.Pro538Thr
NM_001199291.3:c.1612C>A NP_001186220.1:p.Pro538Thr
NM_001199292.1:c.1483C>A NP_001186221.1:p.Pro495Thr
NM_001199292.2:c.1483C>A NP_001186221.1:p.Pro495Thr
NM_001292027.1:c.1465C>A NP_001278956.1:p.Pro489Thr
NM_001292027.2:c.1465C>A NP_001278956.1:p.Pro489Thr
NM_001292028.1:c.1117C>A NP_001278957.1:p.Pro373Thr
NM_001292028.2:c.1117C>A NP_001278957.1:p.Pro373Thr
NM_001374497.1:c.1528C>A NP_001361426.1:p.Pro510Thr
NM_001374498.1:c.1465C>A NP_001361427.1:p.Pro489Thr
NM_001374499.1:c.1210C>A NP_001361428.1:p.Pro404Thr
NM_001374500.1:c.1096C>A NP_001361429.1:p.Pro366Thr
NM_001374501.1:c.1126C>A NP_001361430.1:p.Pro376Thr
NM_001374502.1:c.1126C>A NP_001361431.1:p.Pro376Thr
NM_001374503.1:c.1126C>A NP_001361432.1:p.Pro376Thr
NR_164653.1:n.1634C>A
NR_164654.1:n.1902C>A
ENST00000256216.10:c.1537C>A ENSP00000256216.6:p.Pro513Thr
ENST00000414835.6:c.1117C>A ENSP00000411960.2:p.Pro373Thr
ENST00000414835.7:c.1612C>A ENSP00000411960.3:p.Pro538Thr
ENST00000442060.7:c.*99C>A ENSP00000390208.3:n.*99C>A
ENST00000504811.5:c.1612C>A ENSP00000420914.1:p.Pro538Thr
ENST00000509514.5:c.751C>A ENSP00000426272.1:p.Pro251Thr
ENST00000509514.6:c.1468C>A ENSP00000426272.2:p.Pro490Thr
ENST00000510025.5:c.1465C>A ENSP00000424940.1:p.Pro489Thr
ENST00000513628.5:c.1126C>A ENSP00000425993.1:p.Pro376Thr
ENST00000515235.6:n.3290C>A
ENST00000515320.5:c.1483C>A ENSP00000424613.1:p.Pro495Thr
ENST00000518349.5:n.671C>A
ENST00000518349.6:c.781C>A ENSP00000507185.1:p.Pro261Thr
ENST00000520244.5:n.320C>A
ENST00000520244.6:n.3275C>A
ENST00000522415.5:n.204C>A
ENST00000643250.1:c.*1409C>A ENSP00000494737.1:n.*1409C>A
ENST00000644146.1:c.*2808C>A ENSP00000494808.1:n.*2808C>A
ENST00000645099.1:c.1096C>A ENSP00000496091.1:p.Pro366Thr
ENST00000645702.1:c.*940C>A ENSP00000496432.1:n.*940C>A
ENST00000645832.1:c.*1422C>A ENSP00000494316.1:n.*1422C>A
ENST00000646058.1:c.1537C>A ENSP00000493579.1:p.Pro513Thr
ENST00000646355.1:c.*1543C>A ENSP00000493801.1:n.*1543C>A
ENST00000646554.1:c.*1515C>A ENSP00000494542.1:n.*1515C>A
ENST00000647335.1:c.*1504C>A ENSP00000495180.1:n.*1504C>A
ENST00000647342.1:c.*1468C>A ENSP00000494992.1:n.*1468C>A
ENST00000682445.1:c.*1418C>A ENSP00000508061.1:n.*1418C>A
ENST00000682531.1:n.3429C>A
ENST00000682626.1:c.*1043C>A ENSP00000507857.1:n.*1043C>A
ENST00000682996.1:c.1465C>A ENSP00000507792.1:p.Pro489Thr
ENST00000683265.1:n.3323C>A
ENST00000683335.1:n.2939C>A
ENST00000683371.1:c.*1667C>A ENSP00000508376.1:n.*1667C>A
ENST00000683372.1:n.3547C>A
ENST00000683390.1:n.3227C>A
ENST00000683476.1:n.379C>A
ENST00000683549.1:n.3151C>A
ENST00000683936.1:c.*3115C>A ENSP00000507721.1:n.*3115C>A
ENST00000683974.1:n.3266C>A
ENST00000683996.1:c.*747C>A ENSP00000507060.1:n.*747C>A
ENST00000684131.1:n.3069C>A
ENST00000684160.1:c.*1227C>A ENSP00000507821.1:n.*1227C>A
ENST00000684214.1:c.1537C>A ENSP00000508071.1:p.Pro513Thr