Canonical Allele Identifier: CA1577034498
Community Standard Title: NM_000414.4(HSD17B4):c.1268T= (p.Leu423=)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119506824T= , CM000667.2:g.119506824T= GRCh38
NC_000005.9:g.118842519T= , CM000667.1:g.118842519T= GRCh37
NC_000005.8:g.118870418T= NCBI36
NG_008182.1:g.59372T=

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.1268T= MANE Select NP_000405.1:p.Leu423=
ENST00000510025.7:c.1268T= MANE Select ENSP00000424940.3:p.Leu423=
NM_000414.3:c.1268T= NP_000405.1:p.Leu423=
NM_001199291.2:c.1343T= NP_001186220.1:p.Leu448=
NM_001199291.3:c.1343T= NP_001186220.1:p.Leu448=
NM_001199292.1:c.1214T= NP_001186221.1:p.Leu405=
NM_001199292.2:c.1214T= NP_001186221.1:p.Leu405=
NM_001292027.1:c.1196T= NP_001278956.1:p.Leu399=
NM_001292027.2:c.1196T= NP_001278956.1:p.Leu399=
NM_001292028.1:c.848T= NP_001278957.1:p.Leu283=
NM_001292028.2:c.848T= NP_001278957.1:p.Leu283=
NM_001374497.1:c.1259T= NP_001361426.1:p.Leu420=
NM_001374498.1:c.1262-2317T= NP_001361427.1:n.1262-2317T=
NM_001374499.1:c.941T= NP_001361428.1:p.Leu314=
NM_001374500.1:c.827T= NP_001361429.1:p.Leu276=
NM_001374501.1:c.857T= NP_001361430.1:p.Leu286=
NM_001374502.1:c.857T= NP_001361431.1:p.Leu286=
NM_001374503.1:c.857T= NP_001361432.1:p.Leu286=
NR_164653.1:n.1365T=
NR_164654.1:n.1633T=
ENST00000256216.10:c.1268T= ENSP00000256216.6:p.Leu423=
ENST00000414835.6:c.848T= ENSP00000411960.2:p.Leu283=
ENST00000414835.7:c.1343T= ENSP00000411960.3:p.Leu448=
ENST00000442060.7:c.1268T= ENSP00000390208.3:p.Leu423=
ENST00000504811.5:c.1343T= ENSP00000420914.1:p.Leu448=
ENST00000509514.5:c.482T= ENSP00000426272.1:p.Leu161=
ENST00000509514.6:c.1268T= ENSP00000426272.2:p.Leu423=
ENST00000510025.5:c.1196T= ENSP00000424940.1:p.Leu399=
ENST00000513628.5:c.857T= ENSP00000425993.1:p.Leu286=
ENST00000515235.6:n.3021T=
ENST00000515320.5:c.1214T= ENSP00000424613.1:p.Leu405=
ENST00000518349.5:n.402T=
ENST00000518349.6:c.512T= ENSP00000507185.1:p.Leu171=
ENST00000520244.5:n.51T=
ENST00000643250.1:c.*1140T= ENSP00000494737.1:n.*1140T=
ENST00000644146.1:c.*2539T= ENSP00000494808.1:n.*2539T=
ENST00000645099.1:c.827T= ENSP00000496091.1:p.Leu276=
ENST00000645702.1:c.*671T= ENSP00000496432.1:n.*671T=
ENST00000645832.1:c.*1153T= ENSP00000494316.1:n.*1153T=
ENST00000646058.1:c.1268T= ENSP00000493579.1:p.Leu423=
ENST00000646355.1:c.*1274T= ENSP00000493801.1:n.*1274T=
ENST00000646554.1:c.*1246T= ENSP00000494542.1:n.*1246T=
ENST00000647335.1:c.*1235T= ENSP00000495180.1:n.*1235T=
ENST00000647342.1:c.*1199T= ENSP00000494992.1:n.*1199T=
ENST00000682445.1:c.*1149T= ENSP00000508061.1:n.*1149T=
ENST00000682531.1:n.3160T=
ENST00000682626.1:c.*774T= ENSP00000507857.1:n.*774T=
ENST00000682996.1:c.1262-2317T= ENSP00000507792.1:n.1262-2317T=
ENST00000683265.1:n.3054T=
ENST00000683371.1:c.*1398T= ENSP00000508376.1:n.*1398T=
ENST00000683372.1:n.3278T=
ENST00000683390.1:n.2958T=
ENST00000683549.1:n.2882T=
ENST00000683936.1:c.*2846T= ENSP00000507721.1:n.*2846T=
ENST00000683974.1:n.3043T=
ENST00000683996.1:c.*478T= ENSP00000507060.1:n.*478T=
ENST00000684131.1:n.2800T=
ENST00000684160.1:c.*958T= ENSP00000507821.1:n.*958T=
ENST00000684214.1:c.1268T= ENSP00000508071.1:p.Leu423=