Canonical Allele Identifier: CA446041396

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814553A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478858A>T , CM000667.2:g.119478858A>T	GRCh38
NC_000005.9:g.118814553A>T , CM000667.1:g.118814553A>T	GRCh37
NC_000005.8:g.118842452A>T	NCBI36
NG_008182.1:g.31406A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.459A>T	ENSP00000426272.2:p.Ser153=
ENST00000518349.6:c.113-17685A>T	ENSP00000507185.1:n.113-17685A>T
ENST00000682445.1:c.*340A>T	ENSP00000508061.1:n.*340A>T
ENST00000682531.1:n.560A>T
ENST00000682626.1:c.487A>T	ENSP00000507857.1:p.Arg163Trp
ENST00000682996.1:c.459A>T	ENSP00000507792.1:p.Ser153=
ENST00000683265.1:n.552A>T
ENST00000683371.1:c.*589A>T	ENSP00000508376.1:n.*589A>T
ENST00000683390.1:n.2149A>T
ENST00000683549.1:n.380A>T
ENST00000683936.1:c.*344A>T	ENSP00000507721.1:n.*344A>T
ENST00000683974.1:n.541A>T
ENST00000683996.1:c.48A>T	ENSP00000507060.1:p.Ser16=
ENST00000684131.1:n.298A>T
ENST00000684160.1:c.*149A>T	ENSP00000507821.1:n.*149A>T
ENST00000684214.1:c.459A>T	ENSP00000508071.1:p.Ser153=
ENST00000414835.7:c.534A>T	ENSP00000411960.3:p.Ser178=
ENST00000510025.7:c.459A>T MANE Select	ENSP00000424940.3:p.Ser153=
ENST00000643250.1:c.*331A>T	ENSP00000494737.1:n.*331A>T
ENST00000644146.1:c.*37A>T	ENSP00000494808.1:n.*37A>T
ENST00000645099.1:c.18A>T	ENSP00000496091.1:p.Ser6=
ENST00000645702.1:c.48A>T	ENSP00000496432.1:p.Ser16=
ENST00000645832.1:c.*344A>T	ENSP00000494316.1:n.*344A>T
ENST00000646058.1:c.459A>T	ENSP00000493579.1:p.Ser153=
ENST00000646355.1:c.*465A>T	ENSP00000493801.1:n.*465A>T
ENST00000646554.1:c.*437A>T	ENSP00000494542.1:n.*437A>T
ENST00000646590.1:c.450A>T	ENSP00000494892.1:p.Ser150=
ENST00000647335.1:c.*426A>T	ENSP00000495180.1:n.*426A>T
ENST00000647342.1:c.*390A>T	ENSP00000494992.1:n.*390A>T
ENST00000256216.10:c.459A>T	ENSP00000256216.6:p.Ser153=
ENST00000414835.6:c.39A>T	ENSP00000411960.2:p.Ser13=
ENST00000442060.7:c.459A>T	ENSP00000390208.3:p.Ser153=
ENST00000503168.5:n.448A>T
ENST00000504811.5:c.534A>T	ENSP00000420914.1:p.Ser178=
ENST00000505181.5:n.162A>T
ENST00000508788.5:n.361A>T
ENST00000509514.5:c.-426A>T	ENSP00000426272.1:n.-426A>T
ENST00000510025.5:c.387A>T	ENSP00000424940.1:p.Ser129=
ENST00000512644.1:n.27A>T
ENST00000512841.5:n.507A>T
ENST00000513628.5:c.48A>T	ENSP00000425993.1:p.Ser16=
ENST00000515235.6:n.519A>T
ENST00000515320.5:c.405A>T	ENSP00000424613.1:p.Ser135=
NM_000414.3:c.459A>T	NP_000405.1:p.Ser153=
NM_001199291.2:c.534A>T	NP_001186220.1:p.Ser178=
NM_001199292.1:c.405A>T	NP_001186221.1:p.Ser135=
NM_001292027.1:c.387A>T	NP_001278956.1:p.Ser129=
NM_001292028.1:c.39A>T	NP_001278957.1:p.Ser13=
NM_000414.4:c.459A>T MANE Select	NP_000405.1:p.Ser153=
NM_001199291.3:c.534A>T	NP_001186220.1:p.Ser178=
NM_001199292.2:c.405A>T	NP_001186221.1:p.Ser135=
NM_001292027.2:c.387A>T	NP_001278956.1:p.Ser129=
NM_001292028.2:c.39A>T	NP_001278957.1:p.Ser13=
NM_001374497.1:c.450A>T	NP_001361426.1:p.Ser150=
NM_001374498.1:c.459A>T	NP_001361427.1:p.Ser153=
NM_001374499.1:c.132A>T	NP_001361428.1:p.Ser44=
NM_001374500.1:c.18A>T	NP_001361429.1:p.Ser6=
NM_001374501.1:c.48A>T	NP_001361430.1:p.Ser16=
NM_001374502.1:c.48A>T	NP_001361431.1:p.Ser16=
NM_001374503.1:c.48A>T	NP_001361432.1:p.Ser16=
NR_164653.1:n.538A>T
NR_164654.1:n.726A>T