Canonical Allele Identifier: CA360869246
Community Standard Title: NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119525940G>T , CM000667.2:g.119525940G>T GRCh38
NC_000005.9:g.118861635G>T , CM000667.1:g.118861635G>T GRCh37
NC_000005.8:g.118889534G>T NCBI36
NG_008182.1:g.78488G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.1597G>T MANE Select NP_000405.1:p.Gly533Ter
ENST00000510025.7:c.1597G>T MANE Select ENSP00000424940.3:p.Gly533Ter
NM_000414.3:c.1597G>T NP_000405.1:p.Gly533Ter
NM_001199291.2:c.1672G>T NP_001186220.1:p.Gly558Ter
NM_001199291.3:c.1672G>T NP_001186220.1:p.Gly558Ter
NM_001199292.1:c.1543G>T NP_001186221.1:p.Gly515Ter
NM_001199292.2:c.1543G>T NP_001186221.1:p.Gly515Ter
NM_001292027.1:c.1525G>T NP_001278956.1:p.Gly509Ter
NM_001292027.2:c.1525G>T NP_001278956.1:p.Gly509Ter
NM_001292028.1:c.1177G>T NP_001278957.1:p.Gly393Ter
NM_001292028.2:c.1177G>T NP_001278957.1:p.Gly393Ter
NM_001374497.1:c.1588G>T NP_001361426.1:p.Gly530Ter
NM_001374498.1:c.1525G>T NP_001361427.1:p.Gly509Ter
NM_001374499.1:c.1270G>T NP_001361428.1:p.Gly424Ter
NM_001374500.1:c.1156G>T NP_001361429.1:p.Gly386Ter
NM_001374501.1:c.1186G>T NP_001361430.1:p.Gly396Ter
NM_001374502.1:c.1186G>T NP_001361431.1:p.Gly396Ter
NM_001374503.1:c.1186G>T NP_001361432.1:p.Gly396Ter
NR_164653.1:n.1694G>T
NR_164654.1:n.1962G>T
ENST00000256216.10:c.1597G>T ENSP00000256216.6:p.Gly533Ter
ENST00000414835.6:c.1177G>T ENSP00000411960.2:p.Gly393Ter
ENST00000414835.7:c.1672G>T ENSP00000411960.3:p.Gly558Ter
ENST00000442060.7:c.*159G>T ENSP00000390208.3:n.*159G>T
ENST00000504811.5:c.1672G>T ENSP00000420914.1:p.Gly558Ter
ENST00000507353.1:n.205G>T
ENST00000509514.5:c.811G>T ENSP00000426272.1:p.Gly271Ter
ENST00000509514.6:c.1528G>T ENSP00000426272.2:p.Gly510Ter
ENST00000509951.5:n.52G>T
ENST00000510025.5:c.1525G>T ENSP00000424940.1:p.Gly509Ter
ENST00000513628.5:c.1186G>T ENSP00000425993.1:p.Gly396Ter
ENST00000515235.6:n.3350G>T
ENST00000515320.5:c.1543G>T ENSP00000424613.1:p.Gly515Ter
ENST00000518349.5:n.731G>T
ENST00000518349.6:c.841G>T ENSP00000507185.1:p.Gly281Ter
ENST00000520244.5:n.380G>T
ENST00000520244.6:n.3335G>T
ENST00000522415.5:n.264G>T
ENST00000643250.1:c.*1469G>T ENSP00000494737.1:n.*1469G>T
ENST00000644146.1:c.*2868G>T ENSP00000494808.1:n.*2868G>T
ENST00000645099.1:c.1156G>T ENSP00000496091.1:p.Gly386Ter
ENST00000645702.1:c.*1000G>T ENSP00000496432.1:n.*1000G>T
ENST00000645832.1:c.*1482G>T ENSP00000494316.1:n.*1482G>T
ENST00000646058.1:c.1597G>T ENSP00000493579.1:p.Gly533Ter
ENST00000646355.1:c.*1603G>T ENSP00000493801.1:n.*1603G>T
ENST00000646554.1:c.*1575G>T ENSP00000494542.1:n.*1575G>T
ENST00000647335.1:c.*1564G>T ENSP00000495180.1:n.*1564G>T
ENST00000647342.1:c.*1528G>T ENSP00000494992.1:n.*1528G>T
ENST00000682445.1:c.*1478G>T ENSP00000508061.1:n.*1478G>T
ENST00000682531.1:n.3489G>T
ENST00000682626.1:c.*1103G>T ENSP00000507857.1:n.*1103G>T
ENST00000682996.1:c.1525G>T ENSP00000507792.1:p.Gly509Ter
ENST00000683265.1:n.3383G>T
ENST00000683335.1:n.2999G>T
ENST00000683371.1:c.*1727G>T ENSP00000508376.1:n.*1727G>T
ENST00000683372.1:n.3607G>T
ENST00000683390.1:n.3287G>T
ENST00000683476.1:n.439G>T
ENST00000683549.1:n.3211G>T
ENST00000683936.1:c.*3175G>T ENSP00000507721.1:n.*3175G>T
ENST00000683974.1:n.3326G>T
ENST00000683996.1:c.*807G>T ENSP00000507060.1:n.*807G>T
ENST00000684131.1:n.3129G>T
ENST00000684160.1:c.*1287G>T ENSP00000507821.1:n.*1287G>T
ENST00000684214.1:c.1597G>T ENSP00000508071.1:p.Gly533Ter