Canonical Allele Identifier: CA446052113
Gene: HSD17B4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.118850735T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119515040T>A , CM000667.2:g.119515040T>A GRCh38
NC_000005.9:g.118850735T>A , CM000667.1:g.118850735T>A GRCh37
NC_000005.8:g.118878634T>A NCBI36
NG_008182.1:g.67588T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.1428T>A ENSP00000426272.2:p.Leu476=
ENST00000518349.6:c.741T>A ENSP00000507185.1:p.Leu247=
ENST00000520244.6:n.3235T>A
ENST00000682445.1:c.*1378T>A ENSP00000508061.1:n.*1378T>A
ENST00000682531.1:n.3389T>A
ENST00000682626.1:c.*1003T>A ENSP00000507857.1:n.*1003T>A
ENST00000682996.1:c.1425T>A ENSP00000507792.1:p.Leu475=
ENST00000683265.1:n.3283T>A
ENST00000683335.1:n.2899T>A
ENST00000683371.1:c.*1627T>A ENSP00000508376.1:n.*1627T>A
ENST00000683372.1:n.3507T>A
ENST00000683390.1:n.3187T>A
ENST00000683549.1:n.3111T>A
ENST00000683936.1:c.*3075T>A ENSP00000507721.1:n.*3075T>A
ENST00000683974.1:n.3226T>A
ENST00000683996.1:c.*707T>A ENSP00000507060.1:n.*707T>A
ENST00000684131.1:n.3029T>A
ENST00000684160.1:c.*1187T>A ENSP00000507821.1:n.*1187T>A
ENST00000684214.1:c.1497T>A ENSP00000508071.1:p.Leu499=
ENST00000414835.7:c.1572T>A ENSP00000411960.3:p.Leu524=
ENST00000510025.7:c.1497T>A MANE Select ENSP00000424940.3:p.Leu499=
ENST00000643250.1:c.*1369T>A ENSP00000494737.1:n.*1369T>A
ENST00000644146.1:c.*2768T>A ENSP00000494808.1:n.*2768T>A
ENST00000645099.1:c.1056T>A ENSP00000496091.1:p.Leu352=
ENST00000645702.1:c.*900T>A ENSP00000496432.1:n.*900T>A
ENST00000645832.1:c.*1382T>A ENSP00000494316.1:n.*1382T>A
ENST00000646058.1:c.1497T>A ENSP00000493579.1:p.Leu499=
ENST00000646355.1:c.*1503T>A ENSP00000493801.1:n.*1503T>A
ENST00000646554.1:c.*1475T>A ENSP00000494542.1:n.*1475T>A
ENST00000647335.1:c.*1464T>A ENSP00000495180.1:n.*1464T>A
ENST00000647342.1:c.*1428T>A ENSP00000494992.1:n.*1428T>A
ENST00000256216.10:c.1497T>A ENSP00000256216.6:p.Leu499=
ENST00000414835.6:c.1077T>A ENSP00000411960.2:p.Leu359=
ENST00000442060.7:c.*59T>A ENSP00000390208.3:n.*59T>A
ENST00000504811.5:c.1572T>A ENSP00000420914.1:p.Leu524=
ENST00000509514.5:c.711T>A ENSP00000426272.1:p.Leu237=
ENST00000510025.5:c.1425T>A ENSP00000424940.1:p.Leu475=
ENST00000513628.5:c.1086T>A ENSP00000425993.1:p.Leu362=
ENST00000515235.6:n.3250T>A
ENST00000515320.5:c.1443T>A ENSP00000424613.1:p.Leu481=
ENST00000518349.5:n.631T>A
ENST00000520244.5:n.280T>A
ENST00000522415.5:n.164T>A
NM_000414.3:c.1497T>A NP_000405.1:p.Leu499=
NM_001199291.2:c.1572T>A NP_001186220.1:p.Leu524=
NM_001199292.1:c.1443T>A NP_001186221.1:p.Leu481=
NM_001292027.1:c.1425T>A NP_001278956.1:p.Leu475=
NM_001292028.1:c.1077T>A NP_001278957.1:p.Leu359=
NM_000414.4:c.1497T>A MANE Select NP_000405.1:p.Leu499=
NM_001199291.3:c.1572T>A NP_001186220.1:p.Leu524=
NM_001199292.2:c.1443T>A NP_001186221.1:p.Leu481=
NM_001292027.2:c.1425T>A NP_001278956.1:p.Leu475=
NM_001292028.2:c.1077T>A NP_001278957.1:p.Leu359=
NM_001374497.1:c.1488T>A NP_001361426.1:p.Leu496=
NM_001374498.1:c.1425T>A NP_001361427.1:p.Leu475=
NM_001374499.1:c.1170T>A NP_001361428.1:p.Leu390=
NM_001374500.1:c.1056T>A NP_001361429.1:p.Leu352=
NM_001374501.1:c.1086T>A NP_001361430.1:p.Leu362=
NM_001374502.1:c.1086T>A NP_001361431.1:p.Leu362=
NM_001374503.1:c.1086T>A NP_001361432.1:p.Leu362=
NR_164653.1:n.1594T>A
NR_164654.1:n.1862T>A