Canonical Allele Identifier: CA3382105
Community Standard Title: NM_000414.4(HSD17B4):c.1192T>C (p.Ser398Pro)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119499536T>C , CM000667.2:g.119499536T>C GRCh38
NC_000005.9:g.118835231T>C , CM000667.1:g.118835231T>C GRCh37
NC_000005.8:g.118863130T>C NCBI36
NG_008182.1:g.52084T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.1192T>C MANE Select NP_000405.1:p.Ser398Pro
ENST00000510025.7:c.1192T>C MANE Select ENSP00000424940.3:p.Ser398Pro
NM_000414.3:c.1192T>C NP_000405.1:p.Ser398Pro
NM_001199291.2:c.1267T>C NP_001186220.1:p.Ser423Pro
NM_001199291.3:c.1267T>C NP_001186220.1:p.Ser423Pro
NM_001199292.1:c.1138T>C NP_001186221.1:p.Ser380Pro
NM_001199292.2:c.1138T>C NP_001186221.1:p.Ser380Pro
NM_001292027.1:c.1120T>C NP_001278956.1:p.Ser374Pro
NM_001292027.2:c.1120T>C NP_001278956.1:p.Ser374Pro
NM_001292028.1:c.772T>C NP_001278957.1:p.Ser258Pro
NM_001292028.2:c.772T>C NP_001278957.1:p.Ser258Pro
NM_001374497.1:c.1183T>C NP_001361426.1:p.Ser395Pro
NM_001374498.1:c.1192T>C NP_001361427.1:p.Ser398Pro
NM_001374499.1:c.865T>C NP_001361428.1:p.Ser289Pro
NM_001374500.1:c.751T>C NP_001361429.1:p.Ser251Pro
NM_001374501.1:c.781T>C NP_001361430.1:p.Ser261Pro
NM_001374502.1:c.781T>C NP_001361431.1:p.Ser261Pro
NM_001374503.1:c.781T>C NP_001361432.1:p.Ser261Pro
NR_164653.1:n.1289T>C
NR_164654.1:n.1557T>C
ENST00000256216.10:c.1192T>C ENSP00000256216.6:p.Ser398Pro
ENST00000414835.6:c.772T>C ENSP00000411960.2:p.Ser258Pro
ENST00000414835.7:c.1267T>C ENSP00000411960.3:p.Ser423Pro
ENST00000442060.7:c.1192T>C ENSP00000390208.3:p.Ser398Pro
ENST00000504811.5:c.1267T>C ENSP00000420914.1:p.Ser423Pro
ENST00000509514.5:c.406T>C ENSP00000426272.1:p.Ser136Pro
ENST00000509514.6:c.1192T>C ENSP00000426272.2:p.Ser398Pro
ENST00000510025.5:c.1120T>C ENSP00000424940.1:p.Ser374Pro
ENST00000512029.1:n.311T>C
ENST00000513628.5:c.781T>C ENSP00000425993.1:p.Ser261Pro
ENST00000515235.6:n.2945T>C
ENST00000515320.5:c.1138T>C ENSP00000424613.1:p.Ser380Pro
ENST00000518349.5:n.326T>C
ENST00000518349.6:c.436T>C ENSP00000507185.1:p.Ser146Pro
ENST00000520216.5:n.453T>C
ENST00000643250.1:c.*1064T>C ENSP00000494737.1:n.*1064T>C
ENST00000644146.1:c.*2463T>C ENSP00000494808.1:n.*2463T>C
ENST00000645099.1:c.751T>C ENSP00000496091.1:p.Ser251Pro
ENST00000645702.1:c.*595T>C ENSP00000496432.1:n.*595T>C
ENST00000645832.1:c.*1077T>C ENSP00000494316.1:n.*1077T>C
ENST00000646058.1:c.1192T>C ENSP00000493579.1:p.Ser398Pro
ENST00000646355.1:c.*1198T>C ENSP00000493801.1:n.*1198T>C
ENST00000646554.1:c.*1170T>C ENSP00000494542.1:n.*1170T>C
ENST00000647335.1:c.*1159T>C ENSP00000495180.1:n.*1159T>C
ENST00000647342.1:c.*1123T>C ENSP00000494992.1:n.*1123T>C
ENST00000682445.1:c.*1073T>C ENSP00000508061.1:n.*1073T>C
ENST00000682531.1:n.3084T>C
ENST00000682626.1:c.*698T>C ENSP00000507857.1:n.*698T>C
ENST00000682996.1:c.1192T>C ENSP00000507792.1:p.Ser398Pro
ENST00000683265.1:n.2978T>C
ENST00000683371.1:c.*1322T>C ENSP00000508376.1:n.*1322T>C
ENST00000683372.1:n.3202T>C
ENST00000683390.1:n.2882T>C
ENST00000683549.1:n.2806T>C
ENST00000683936.1:c.*2770T>C ENSP00000507721.1:n.*2770T>C
ENST00000683974.1:n.2967T>C
ENST00000683996.1:c.*402T>C ENSP00000507060.1:n.*402T>C
ENST00000684131.1:n.2724T>C
ENST00000684160.1:c.*882T>C ENSP00000507821.1:n.*882T>C
ENST00000684214.1:c.1192T>C ENSP00000508071.1:p.Ser398Pro