Canonical Allele Identifier: CA360871106

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118867017T>G (hg19) ; chr5:g.119531322T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531322T>G , CM000667.2:g.119531322T>G	GRCh38
NC_000005.9:g.118867017T>G , CM000667.1:g.118867017T>G	GRCh37
NC_000005.8:g.118894916T>G	NCBI36
NG_008182.1:g.83870T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1842T>G	ENSP00000426272.2:p.Asp614Glu
ENST00000518349.6:c.1155T>G	ENSP00000507185.1:p.Asp385Glu
ENST00000682445.1:c.*1792T>G	ENSP00000508061.1:n.*1792T>G
ENST00000682531.1:n.3803T>G
ENST00000682626.1:c.*1417T>G	ENSP00000507857.1:n.*1417T>G
ENST00000682996.1:c.1839T>G	ENSP00000507792.1:p.Asp613Glu
ENST00000683265.1:n.3697T>G
ENST00000683335.1:n.3313T>G
ENST00000683371.1:c.*2041T>G	ENSP00000508376.1:n.*2041T>G
ENST00000683372.1:n.3921T>G
ENST00000683390.1:n.3601T>G
ENST00000683476.1:n.753T>G
ENST00000683549.1:n.3525T>G
ENST00000683936.1:c.*3489T>G	ENSP00000507721.1:n.*3489T>G
ENST00000683974.1:n.3640T>G
ENST00000683996.1:c.*1121T>G	ENSP00000507060.1:n.*1121T>G
ENST00000684131.1:n.3443T>G
ENST00000684160.1:c.*1601T>G	ENSP00000507821.1:n.*1601T>G
ENST00000684214.1:c.1854+1342T>G	ENSP00000508071.1:n.1854+1342T>G
ENST00000414835.7:c.1986T>G	ENSP00000411960.3:p.Asp662Glu
ENST00000510025.7:c.1911T>G MANE Select	ENSP00000424940.3:p.Asp637Glu
ENST00000643250.1:c.*1783T>G	ENSP00000494737.1:n.*1783T>G
ENST00000644146.1:c.*3182T>G	ENSP00000494808.1:n.*3182T>G
ENST00000645099.1:c.1470T>G	ENSP00000496091.1:p.Asp490Glu
ENST00000645702.1:c.*1314T>G	ENSP00000496432.1:n.*1314T>G
ENST00000645832.1:c.*1796T>G	ENSP00000494316.1:n.*1796T>G
ENST00000646058.1:c.1911T>G	ENSP00000493579.1:p.Asp637Glu
ENST00000646355.1:c.*1917T>G	ENSP00000493801.1:n.*1917T>G
ENST00000646554.1:c.*1889T>G	ENSP00000494542.1:n.*1889T>G
ENST00000647335.1:c.*1878T>G	ENSP00000495180.1:n.*1878T>G
ENST00000647342.1:c.*1842T>G	ENSP00000494992.1:n.*1842T>G
ENST00000256216.10:c.1911T>G	ENSP00000256216.6:p.Asp637Glu
ENST00000414835.6:c.1491T>G	ENSP00000411960.2:p.Asp497Glu
ENST00000442060.7:c.*466T>G	ENSP00000390208.3:n.*466T>G
ENST00000504811.5:c.1986T>G	ENSP00000420914.1:p.Asp662Glu
ENST00000509514.5:c.1125T>G	ENSP00000426272.1:p.Asp375Glu
ENST00000509606.1:n.206T>G
ENST00000509951.5:n.309+1342T>G
ENST00000510025.5:c.1839T>G	ENSP00000424940.1:p.Asp613Glu
ENST00000513628.5:c.1500T>G	ENSP00000425993.1:p.Asp500Glu
ENST00000515235.6:n.3664T>G
ENST00000515320.5:c.1857T>G	ENSP00000424613.1:p.Asp619Glu
ENST00000522415.5:n.578T>G
NM_000414.3:c.1911T>G	NP_000405.1:p.Asp637Glu
NM_001199291.2:c.1986T>G	NP_001186220.1:p.Asp662Glu
NM_001199292.1:c.1857T>G	NP_001186221.1:p.Asp619Glu
NM_001292027.1:c.1839T>G	NP_001278956.1:p.Asp613Glu
NM_001292028.1:c.1491T>G	NP_001278957.1:p.Asp497Glu
NM_000414.4:c.1911T>G MANE Select	NP_000405.1:p.Asp637Glu
NM_001199291.3:c.1986T>G	NP_001186220.1:p.Asp662Glu
NM_001199292.2:c.1857T>G	NP_001186221.1:p.Asp619Glu
NM_001292027.2:c.1839T>G	NP_001278956.1:p.Asp613Glu
NM_001292028.2:c.1491T>G	NP_001278957.1:p.Asp497Glu
NM_001374497.1:c.1902T>G	NP_001361426.1:p.Asp634Glu
NM_001374498.1:c.1839T>G	NP_001361427.1:p.Asp613Glu
NM_001374499.1:c.1584T>G	NP_001361428.1:p.Asp528Glu
NM_001374500.1:c.1470T>G	NP_001361429.1:p.Asp490Glu
NM_001374501.1:c.1500T>G	NP_001361430.1:p.Asp500Glu
NM_001374502.1:c.1500T>G	NP_001361431.1:p.Asp500Glu
NM_001374503.1:c.1500T>G	NP_001361432.1:p.Asp500Glu
NR_164653.1:n.2008T>G
NR_164654.1:n.2276T>G