Canonical Allele Identifier: CA446041499

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814619A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478924A>T , CM000667.2:g.119478924A>T	GRCh38
NC_000005.9:g.118814619A>T , CM000667.1:g.118814619A>T	GRCh37
NC_000005.8:g.118842518A>T	NCBI36
NG_008182.1:g.31472A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.525A>T	ENSP00000426272.2:p.Ala175=
ENST00000518349.6:c.113-17619A>T	ENSP00000507185.1:n.113-17619A>T
ENST00000682445.1:c.*406A>T	ENSP00000508061.1:n.*406A>T
ENST00000682531.1:n.626A>T
ENST00000682626.1:c.*31A>T	ENSP00000507857.1:n.*31A>T
ENST00000682996.1:c.525A>T	ENSP00000507792.1:p.Ala175=
ENST00000683265.1:n.618A>T
ENST00000683371.1:c.*655A>T	ENSP00000508376.1:n.*655A>T
ENST00000683390.1:n.2215A>T
ENST00000683549.1:n.446A>T
ENST00000683936.1:c.*410A>T	ENSP00000507721.1:n.*410A>T
ENST00000683974.1:n.607A>T
ENST00000683996.1:c.114A>T	ENSP00000507060.1:p.Ala38=
ENST00000684131.1:n.364A>T
ENST00000684160.1:c.*215A>T	ENSP00000507821.1:n.*215A>T
ENST00000684214.1:c.525A>T	ENSP00000508071.1:p.Ala175=
ENST00000414835.7:c.600A>T	ENSP00000411960.3:p.Ala200=
ENST00000510025.7:c.525A>T MANE Select	ENSP00000424940.3:p.Ala175=
ENST00000643250.1:c.*397A>T	ENSP00000494737.1:n.*397A>T
ENST00000644146.1:c.*103A>T	ENSP00000494808.1:n.*103A>T
ENST00000645099.1:c.84A>T	ENSP00000496091.1:p.Ala28=
ENST00000645702.1:c.114A>T	ENSP00000496432.1:p.Ala38=
ENST00000645832.1:c.*410A>T	ENSP00000494316.1:n.*410A>T
ENST00000646058.1:c.525A>T	ENSP00000493579.1:p.Ala175=
ENST00000646355.1:c.*531A>T	ENSP00000493801.1:n.*531A>T
ENST00000646554.1:c.*503A>T	ENSP00000494542.1:n.*503A>T
ENST00000647335.1:c.*492A>T	ENSP00000495180.1:n.*492A>T
ENST00000647342.1:c.*456A>T	ENSP00000494992.1:n.*456A>T
ENST00000256216.10:c.525A>T	ENSP00000256216.6:p.Ala175=
ENST00000414835.6:c.105A>T	ENSP00000411960.2:p.Ala35=
ENST00000442060.7:c.525A>T	ENSP00000390208.3:p.Ala175=
ENST00000503168.5:n.514A>T
ENST00000504811.5:c.600A>T	ENSP00000420914.1:p.Ala200=
ENST00000505181.5:n.228A>T
ENST00000508788.5:n.427A>T
ENST00000509514.5:c.-360A>T	ENSP00000426272.1:n.-360A>T
ENST00000510025.5:c.453A>T	ENSP00000424940.1:p.Ala151=
ENST00000512644.1:n.93A>T
ENST00000512841.5:n.573A>T
ENST00000513628.5:c.114A>T	ENSP00000425993.1:p.Ala38=
ENST00000515235.6:n.585A>T
ENST00000515320.5:c.471A>T	ENSP00000424613.1:p.Ala157=
NM_000414.3:c.525A>T	NP_000405.1:p.Ala175=
NM_001199291.2:c.600A>T	NP_001186220.1:p.Ala200=
NM_001199292.1:c.471A>T	NP_001186221.1:p.Ala157=
NM_001292027.1:c.453A>T	NP_001278956.1:p.Ala151=
NM_001292028.1:c.105A>T	NP_001278957.1:p.Ala35=
NM_000414.4:c.525A>T MANE Select	NP_000405.1:p.Ala175=
NM_001199291.3:c.600A>T	NP_001186220.1:p.Ala200=
NM_001199292.2:c.471A>T	NP_001186221.1:p.Ala157=
NM_001292027.2:c.453A>T	NP_001278956.1:p.Ala151=
NM_001292028.2:c.105A>T	NP_001278957.1:p.Ala35=
NM_001374497.1:c.516A>T	NP_001361426.1:p.Ala172=
NM_001374498.1:c.525A>T	NP_001361427.1:p.Ala175=
NM_001374499.1:c.198A>T	NP_001361428.1:p.Ala66=
NM_001374500.1:c.84A>T	NP_001361429.1:p.Ala28=
NM_001374501.1:c.114A>T	NP_001361430.1:p.Ala38=
NM_001374502.1:c.114A>T	NP_001361431.1:p.Ala38=
NM_001374503.1:c.114A>T	NP_001361432.1:p.Ala38=
NR_164653.1:n.604A>T
NR_164654.1:n.792A>T