Canonical Allele Identifier: CA1577012891
Community Standard Title: NM_000414.4(HSD17B4):c.872C= (p.Ser291=)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119496546C= , CM000667.2:g.119496546C= GRCh38
NC_000005.9:g.118832241C= , CM000667.1:g.118832241C= GRCh37
NC_000005.8:g.118860140C= NCBI36
NG_008182.1:g.49094C=

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.872C= MANE Select NP_000405.1:p.Ser291=
ENST00000510025.7:c.872C= MANE Select ENSP00000424940.3:p.Ser291=
NM_000414.3:c.872C= NP_000405.1:p.Ser291=
NM_001199291.2:c.947C= NP_001186220.1:p.Ser316=
NM_001199291.3:c.947C= NP_001186220.1:p.Ser316=
NM_001199292.1:c.818C= NP_001186221.1:p.Ser273=
NM_001199292.2:c.818C= NP_001186221.1:p.Ser273=
NM_001292027.1:c.800C= NP_001278956.1:p.Ser267=
NM_001292027.2:c.800C= NP_001278956.1:p.Ser267=
NM_001292028.1:c.452C= NP_001278957.1:p.Ser151=
NM_001292028.2:c.452C= NP_001278957.1:p.Ser151=
NM_001374497.1:c.863C= NP_001361426.1:p.Ser288=
NM_001374498.1:c.872C= NP_001361427.1:p.Ser291=
NM_001374499.1:c.545C= NP_001361428.1:p.Ser182=
NM_001374500.1:c.431C= NP_001361429.1:p.Ser144=
NM_001374501.1:c.461C= NP_001361430.1:p.Ser154=
NM_001374502.1:c.461C= NP_001361431.1:p.Ser154=
NM_001374503.1:c.461C= NP_001361432.1:p.Ser154=
NR_164653.1:n.969C=
NR_164654.1:n.1237C=
ENST00000256216.10:c.872C= ENSP00000256216.6:p.Ser291=
ENST00000414835.6:c.452C= ENSP00000411960.2:p.Ser151=
ENST00000414835.7:c.947C= ENSP00000411960.3:p.Ser316=
ENST00000442060.7:c.872C= ENSP00000390208.3:p.Ser291=
ENST00000504811.5:c.947C= ENSP00000420914.1:p.Ser316=
ENST00000509514.5:c.86C= ENSP00000426272.1:p.Ser29=
ENST00000509514.6:c.872C= ENSP00000426272.2:p.Ser291=
ENST00000510025.5:c.800C= ENSP00000424940.1:p.Ser267=
ENST00000513628.5:c.461C= ENSP00000425993.1:p.Ser154=
ENST00000515235.6:n.2625C=
ENST00000515320.5:c.818C= ENSP00000424613.1:p.Ser273=
ENST00000518349.5:n.6C=
ENST00000518349.6:c.116C= ENSP00000507185.1:p.Ser39=
ENST00000520216.5:n.133C=
ENST00000643250.1:c.*744C= ENSP00000494737.1:n.*744C=
ENST00000644146.1:c.*2143C= ENSP00000494808.1:n.*2143C=
ENST00000645099.1:c.431C= ENSP00000496091.1:p.Ser144=
ENST00000645702.1:c.*275C= ENSP00000496432.1:n.*275C=
ENST00000645832.1:c.*757C= ENSP00000494316.1:n.*757C=
ENST00000646058.1:c.872C= ENSP00000493579.1:p.Ser291=
ENST00000646355.1:c.*878C= ENSP00000493801.1:n.*878C=
ENST00000646554.1:c.*850C= ENSP00000494542.1:n.*850C=
ENST00000647335.1:c.*839C= ENSP00000495180.1:n.*839C=
ENST00000647342.1:c.*803C= ENSP00000494992.1:n.*803C=
ENST00000682445.1:c.*753C= ENSP00000508061.1:n.*753C=
ENST00000682531.1:n.2764C=
ENST00000682626.1:c.*378C= ENSP00000507857.1:n.*378C=
ENST00000682996.1:c.872C= ENSP00000507792.1:p.Ser291=
ENST00000683265.1:n.2658C=
ENST00000683371.1:c.*1002C= ENSP00000508376.1:n.*1002C=
ENST00000683372.1:n.2882C=
ENST00000683390.1:n.2562C=
ENST00000683549.1:n.2486C=
ENST00000683936.1:c.*2450C= ENSP00000507721.1:n.*2450C=
ENST00000683974.1:n.2647C=
ENST00000683996.1:c.*82C= ENSP00000507060.1:n.*82C=
ENST00000684131.1:n.2404C=
ENST00000684160.1:c.*562C= ENSP00000507821.1:n.*562C=
ENST00000684214.1:c.872C= ENSP00000508071.1:p.Ser291=