Canonical Allele Identifier: CA446036913

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118867017T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1842T>C	ENSP00000426272.2:p.Asp614=
ENST00000518349.6:c.1155T>C	ENSP00000507185.1:p.Asp385=
ENST00000682445.1:c.*1792T>C	ENSP00000508061.1:n.*1792T>C
ENST00000682531.1:n.3803T>C
ENST00000682626.1:c.*1417T>C	ENSP00000507857.1:n.*1417T>C
ENST00000682996.1:c.1839T>C	ENSP00000507792.1:p.Asp613=
ENST00000683265.1:n.3697T>C
ENST00000683335.1:n.3313T>C
ENST00000683371.1:c.*2041T>C	ENSP00000508376.1:n.*2041T>C
ENST00000683372.1:n.3921T>C
ENST00000683390.1:n.3601T>C
ENST00000683476.1:n.753T>C
ENST00000683549.1:n.3525T>C
ENST00000683936.1:c.*3489T>C	ENSP00000507721.1:n.*3489T>C
ENST00000683974.1:n.3640T>C
ENST00000683996.1:c.*1121T>C	ENSP00000507060.1:n.*1121T>C
ENST00000684131.1:n.3443T>C
ENST00000684160.1:c.*1601T>C	ENSP00000507821.1:n.*1601T>C
ENST00000684214.1:c.1854+1342T>C	ENSP00000508071.1:n.1854+1342T>C
ENST00000414835.7:c.1986T>C	ENSP00000411960.3:p.Asp662=
ENST00000510025.7:c.1911T>C MANE Select	ENSP00000424940.3:p.Asp637=
ENST00000643250.1:c.*1783T>C	ENSP00000494737.1:n.*1783T>C
ENST00000644146.1:c.*3182T>C	ENSP00000494808.1:n.*3182T>C
ENST00000645099.1:c.1470T>C	ENSP00000496091.1:p.Asp490=
ENST00000645702.1:c.*1314T>C	ENSP00000496432.1:n.*1314T>C
ENST00000645832.1:c.*1796T>C	ENSP00000494316.1:n.*1796T>C
ENST00000646058.1:c.1911T>C	ENSP00000493579.1:p.Asp637=
ENST00000646355.1:c.*1917T>C	ENSP00000493801.1:n.*1917T>C
ENST00000646554.1:c.*1889T>C	ENSP00000494542.1:n.*1889T>C
ENST00000647335.1:c.*1878T>C	ENSP00000495180.1:n.*1878T>C
ENST00000647342.1:c.*1842T>C	ENSP00000494992.1:n.*1842T>C
ENST00000256216.10:c.1911T>C	ENSP00000256216.6:p.Asp637=
ENST00000414835.6:c.1491T>C	ENSP00000411960.2:p.Asp497=
ENST00000442060.7:c.*466T>C	ENSP00000390208.3:n.*466T>C
ENST00000504811.5:c.1986T>C	ENSP00000420914.1:p.Asp662=
ENST00000509514.5:c.1125T>C	ENSP00000426272.1:p.Asp375=
ENST00000509606.1:n.206T>C
ENST00000509951.5:n.309+1342T>C
ENST00000510025.5:c.1839T>C	ENSP00000424940.1:p.Asp613=
ENST00000513628.5:c.1500T>C	ENSP00000425993.1:p.Asp500=
ENST00000515235.6:n.3664T>C
ENST00000515320.5:c.1857T>C	ENSP00000424613.1:p.Asp619=
ENST00000522415.5:n.578T>C
NM_000414.3:c.1911T>C	NP_000405.1:p.Asp637=
NM_001199291.2:c.1986T>C	NP_001186220.1:p.Asp662=
NM_001199292.1:c.1857T>C	NP_001186221.1:p.Asp619=
NM_001292027.1:c.1839T>C	NP_001278956.1:p.Asp613=
NM_001292028.1:c.1491T>C	NP_001278957.1:p.Asp497=
NM_000414.4:c.1911T>C MANE Select	NP_000405.1:p.Asp637=
NM_001199291.3:c.1986T>C	NP_001186220.1:p.Asp662=
NM_001199292.2:c.1857T>C	NP_001186221.1:p.Asp619=
NM_001292027.2:c.1839T>C	NP_001278956.1:p.Asp613=
NM_001292028.2:c.1491T>C	NP_001278957.1:p.Asp497=
NM_001374497.1:c.1902T>C	NP_001361426.1:p.Asp634=
NM_001374498.1:c.1839T>C	NP_001361427.1:p.Asp613=
NM_001374499.1:c.1584T>C	NP_001361428.1:p.Asp528=
NM_001374500.1:c.1470T>C	NP_001361429.1:p.Asp490=
NM_001374501.1:c.1500T>C	NP_001361430.1:p.Asp500=
NM_001374502.1:c.1500T>C	NP_001361431.1:p.Asp500=
NM_001374503.1:c.1500T>C	NP_001361432.1:p.Asp500=
NR_164653.1:n.2008T>C
NR_164654.1:n.2276T>C