Canonical Allele Identifier: CA1577011073
Community Standard Title: NM_000414.4(HSD17B4):c.819G= (p.Trp273=)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119493897G= , CM000667.2:g.119493897G= GRCh38
NC_000005.9:g.118829592G= , CM000667.1:g.118829592G= GRCh37
NC_000005.8:g.118857491G= NCBI36
NG_008182.1:g.46445G=

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.819G= MANE Select NP_000405.1:p.Trp273=
ENST00000510025.7:c.819G= MANE Select ENSP00000424940.3:p.Trp273=
NM_000414.3:c.819G= NP_000405.1:p.Trp273=
NM_001199291.2:c.894G= NP_001186220.1:p.Trp298=
NM_001199291.3:c.894G= NP_001186220.1:p.Trp298=
NM_001199292.1:c.765G= NP_001186221.1:p.Trp255=
NM_001199292.2:c.765G= NP_001186221.1:p.Trp255=
NM_001292027.1:c.747G= NP_001278956.1:p.Trp249=
NM_001292027.2:c.747G= NP_001278956.1:p.Trp249=
NM_001292028.1:c.399G= NP_001278957.1:p.Trp133=
NM_001292028.2:c.399G= NP_001278957.1:p.Trp133=
NM_001374497.1:c.810G= NP_001361426.1:p.Trp270=
NM_001374498.1:c.819G= NP_001361427.1:p.Trp273=
NM_001374499.1:c.492G= NP_001361428.1:p.Trp164=
NM_001374500.1:c.378G= NP_001361429.1:p.Trp126=
NM_001374501.1:c.408G= NP_001361430.1:p.Trp136=
NM_001374502.1:c.408G= NP_001361431.1:p.Trp136=
NM_001374503.1:c.408G= NP_001361432.1:p.Trp136=
NR_164653.1:n.916G=
NR_164654.1:n.1086G=
ENST00000256216.10:c.819G= ENSP00000256216.6:p.Trp273=
ENST00000414835.6:c.399G= ENSP00000411960.2:p.Trp133=
ENST00000414835.7:c.894G= ENSP00000411960.3:p.Trp298=
ENST00000442060.7:c.819G= ENSP00000390208.3:p.Trp273=
ENST00000504811.5:c.894G= ENSP00000420914.1:p.Trp298=
ENST00000509514.5:c.-66G= ENSP00000426272.1:n.-66G=
ENST00000509514.6:c.819G= ENSP00000426272.2:p.Trp273=
ENST00000510025.5:c.747G= ENSP00000424940.1:p.Trp249=
ENST00000513628.5:c.408G= ENSP00000425993.1:p.Trp136=
ENST00000515235.6:n.2572G=
ENST00000515320.5:c.765G= ENSP00000424613.1:p.Trp255=
ENST00000518349.6:c.113-2646G= ENSP00000507185.1:n.113-2646G=
ENST00000520216.5:n.80G=
ENST00000643250.1:c.*691G= ENSP00000494737.1:n.*691G=
ENST00000644146.1:c.*2090G= ENSP00000494808.1:n.*2090G=
ENST00000645099.1:c.378G= ENSP00000496091.1:p.Trp126=
ENST00000645702.1:c.*222G= ENSP00000496432.1:n.*222G=
ENST00000645832.1:c.*704G= ENSP00000494316.1:n.*704G=
ENST00000646058.1:c.819G= ENSP00000493579.1:p.Trp273=
ENST00000646355.1:c.*825G= ENSP00000493801.1:n.*825G=
ENST00000646554.1:c.*797G= ENSP00000494542.1:n.*797G=
ENST00000647335.1:c.*786G= ENSP00000495180.1:n.*786G=
ENST00000647342.1:c.*750G= ENSP00000494992.1:n.*750G=
ENST00000682445.1:c.*700G= ENSP00000508061.1:n.*700G=
ENST00000682531.1:n.2613G=
ENST00000682626.1:c.*325G= ENSP00000507857.1:n.*325G=
ENST00000682996.1:c.819G= ENSP00000507792.1:p.Trp273=
ENST00000683265.1:n.2605G=
ENST00000683371.1:c.*949G= ENSP00000508376.1:n.*949G=
ENST00000683372.1:n.2829G=
ENST00000683390.1:n.2509G=
ENST00000683549.1:n.2433G=
ENST00000683936.1:c.*2397G= ENSP00000507721.1:n.*2397G=
ENST00000683974.1:n.2594G=
ENST00000683996.1:c.408G= ENSP00000507060.1:p.Trp136=
ENST00000684131.1:n.2351G=
ENST00000684160.1:c.*509G= ENSP00000507821.1:n.*509G=
ENST00000684214.1:c.819G= ENSP00000508071.1:p.Trp273=