Canonical Allele Identifier: CA446041535
Gene: HSD17B4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.118814673T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119478978T>A , CM000667.2:g.119478978T>A GRCh38
NC_000005.9:g.118814673T>A , CM000667.1:g.118814673T>A GRCh37
NC_000005.8:g.118842572T>A NCBI36
NG_008182.1:g.31526T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.579T>A ENSP00000426272.2:p.Ala193=
ENST00000518349.6:c.113-17565T>A ENSP00000507185.1:n.113-17565T>A
ENST00000682445.1:c.*460T>A ENSP00000508061.1:n.*460T>A
ENST00000682531.1:n.680T>A
ENST00000682626.1:c.*85T>A ENSP00000507857.1:n.*85T>A
ENST00000682996.1:c.579T>A ENSP00000507792.1:p.Ala193=
ENST00000683265.1:n.672T>A
ENST00000683371.1:c.*709T>A ENSP00000508376.1:n.*709T>A
ENST00000683390.1:n.2269T>A
ENST00000683549.1:n.500T>A
ENST00000683936.1:c.*464T>A ENSP00000507721.1:n.*464T>A
ENST00000683974.1:n.661T>A
ENST00000683996.1:c.168T>A ENSP00000507060.1:p.Ala56=
ENST00000684131.1:n.418T>A
ENST00000684160.1:c.*269T>A ENSP00000507821.1:n.*269T>A
ENST00000684214.1:c.579T>A ENSP00000508071.1:p.Ala193=
ENST00000414835.7:c.654T>A ENSP00000411960.3:p.Ala218=
ENST00000510025.7:c.579T>A MANE Select ENSP00000424940.3:p.Ala193=
ENST00000643250.1:c.*451T>A ENSP00000494737.1:n.*451T>A
ENST00000644146.1:c.*157T>A ENSP00000494808.1:n.*157T>A
ENST00000645099.1:c.138T>A ENSP00000496091.1:p.Ala46=
ENST00000645702.1:c.168T>A ENSP00000496432.1:p.Ala56=
ENST00000645832.1:c.*464T>A ENSP00000494316.1:n.*464T>A
ENST00000646058.1:c.579T>A ENSP00000493579.1:p.Ala193=
ENST00000646355.1:c.*585T>A ENSP00000493801.1:n.*585T>A
ENST00000646554.1:c.*557T>A ENSP00000494542.1:n.*557T>A
ENST00000647335.1:c.*546T>A ENSP00000495180.1:n.*546T>A
ENST00000647342.1:c.*510T>A ENSP00000494992.1:n.*510T>A
ENST00000256216.10:c.579T>A ENSP00000256216.6:p.Ala193=
ENST00000414835.6:c.159T>A ENSP00000411960.2:p.Ala53=
ENST00000442060.7:c.579T>A ENSP00000390208.3:p.Ala193=
ENST00000503168.5:n.568T>A
ENST00000504811.5:c.654T>A ENSP00000420914.1:p.Ala218=
ENST00000505181.5:n.282T>A
ENST00000509514.5:c.-306T>A ENSP00000426272.1:n.-306T>A
ENST00000510025.5:c.507T>A ENSP00000424940.1:p.Ala169=
ENST00000512644.1:n.147T>A
ENST00000513628.5:c.168T>A ENSP00000425993.1:p.Ala56=
ENST00000515235.6:n.639T>A
ENST00000515320.5:c.525T>A ENSP00000424613.1:p.Ala175=
NM_000414.3:c.579T>A NP_000405.1:p.Ala193=
NM_001199291.2:c.654T>A NP_001186220.1:p.Ala218=
NM_001199292.1:c.525T>A NP_001186221.1:p.Ala175=
NM_001292027.1:c.507T>A NP_001278956.1:p.Ala169=
NM_001292028.1:c.159T>A NP_001278957.1:p.Ala53=
NM_000414.4:c.579T>A MANE Select NP_000405.1:p.Ala193=
NM_001199291.3:c.654T>A NP_001186220.1:p.Ala218=
NM_001199292.2:c.525T>A NP_001186221.1:p.Ala175=
NM_001292027.2:c.507T>A NP_001278956.1:p.Ala169=
NM_001292028.2:c.159T>A NP_001278957.1:p.Ala53=
NM_001374497.1:c.570T>A NP_001361426.1:p.Ala190=
NM_001374498.1:c.579T>A NP_001361427.1:p.Ala193=
NM_001374499.1:c.252T>A NP_001361428.1:p.Ala84=
NM_001374500.1:c.138T>A NP_001361429.1:p.Ala46=
NM_001374501.1:c.168T>A NP_001361430.1:p.Ala56=
NM_001374502.1:c.168T>A NP_001361431.1:p.Ala56=
NM_001374503.1:c.168T>A NP_001361432.1:p.Ala56=
NR_164653.1:n.658T>A
NR_164654.1:n.846T>A