Canonical Allele Identifier: CA446041491

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814613C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478918C>A , CM000667.2:g.119478918C>A	GRCh38
NC_000005.9:g.118814613C>A , CM000667.1:g.118814613C>A	GRCh37
NC_000005.8:g.118842512C>A	NCBI36
NG_008182.1:g.31466C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.519C>A	ENSP00000426272.2:p.Gly173=
ENST00000518349.6:c.113-17625C>A	ENSP00000507185.1:n.113-17625C>A
ENST00000682445.1:c.*400C>A	ENSP00000508061.1:n.*400C>A
ENST00000682531.1:n.620C>A
ENST00000682626.1:c.*25C>A	ENSP00000507857.1:n.*25C>A
ENST00000682996.1:c.519C>A	ENSP00000507792.1:p.Gly173=
ENST00000683265.1:n.612C>A
ENST00000683371.1:c.*649C>A	ENSP00000508376.1:n.*649C>A
ENST00000683390.1:n.2209C>A
ENST00000683549.1:n.440C>A
ENST00000683936.1:c.*404C>A	ENSP00000507721.1:n.*404C>A
ENST00000683974.1:n.601C>A
ENST00000683996.1:c.108C>A	ENSP00000507060.1:p.Gly36=
ENST00000684131.1:n.358C>A
ENST00000684160.1:c.*209C>A	ENSP00000507821.1:n.*209C>A
ENST00000684214.1:c.519C>A	ENSP00000508071.1:p.Gly173=
ENST00000414835.7:c.594C>A	ENSP00000411960.3:p.Gly198=
ENST00000510025.7:c.519C>A MANE Select	ENSP00000424940.3:p.Gly173=
ENST00000643250.1:c.*391C>A	ENSP00000494737.1:n.*391C>A
ENST00000644146.1:c.*97C>A	ENSP00000494808.1:n.*97C>A
ENST00000645099.1:c.78C>A	ENSP00000496091.1:p.Gly26=
ENST00000645702.1:c.108C>A	ENSP00000496432.1:p.Gly36=
ENST00000645832.1:c.*404C>A	ENSP00000494316.1:n.*404C>A
ENST00000646058.1:c.519C>A	ENSP00000493579.1:p.Gly173=
ENST00000646355.1:c.*525C>A	ENSP00000493801.1:n.*525C>A
ENST00000646554.1:c.*497C>A	ENSP00000494542.1:n.*497C>A
ENST00000647335.1:c.*486C>A	ENSP00000495180.1:n.*486C>A
ENST00000647342.1:c.*450C>A	ENSP00000494992.1:n.*450C>A
ENST00000256216.10:c.519C>A	ENSP00000256216.6:p.Gly173=
ENST00000414835.6:c.99C>A	ENSP00000411960.2:p.Gly33=
ENST00000442060.7:c.519C>A	ENSP00000390208.3:p.Gly173=
ENST00000503168.5:n.508C>A
ENST00000504811.5:c.594C>A	ENSP00000420914.1:p.Gly198=
ENST00000505181.5:n.222C>A
ENST00000508788.5:n.421C>A
ENST00000509514.5:c.-366C>A	ENSP00000426272.1:n.-366C>A
ENST00000510025.5:c.447C>A	ENSP00000424940.1:p.Gly149=
ENST00000512644.1:n.87C>A
ENST00000512841.5:n.567C>A
ENST00000513628.5:c.108C>A	ENSP00000425993.1:p.Gly36=
ENST00000515235.6:n.579C>A
ENST00000515320.5:c.465C>A	ENSP00000424613.1:p.Gly155=
NM_000414.3:c.519C>A	NP_000405.1:p.Gly173=
NM_001199291.2:c.594C>A	NP_001186220.1:p.Gly198=
NM_001199292.1:c.465C>A	NP_001186221.1:p.Gly155=
NM_001292027.1:c.447C>A	NP_001278956.1:p.Gly149=
NM_001292028.1:c.99C>A	NP_001278957.1:p.Gly33=
NM_000414.4:c.519C>A MANE Select	NP_000405.1:p.Gly173=
NM_001199291.3:c.594C>A	NP_001186220.1:p.Gly198=
NM_001199292.2:c.465C>A	NP_001186221.1:p.Gly155=
NM_001292027.2:c.447C>A	NP_001278956.1:p.Gly149=
NM_001292028.2:c.99C>A	NP_001278957.1:p.Gly33=
NM_001374497.1:c.510C>A	NP_001361426.1:p.Gly170=
NM_001374498.1:c.519C>A	NP_001361427.1:p.Gly173=
NM_001374499.1:c.192C>A	NP_001361428.1:p.Gly64=
NM_001374500.1:c.78C>A	NP_001361429.1:p.Gly26=
NM_001374501.1:c.108C>A	NP_001361430.1:p.Gly36=
NM_001374502.1:c.108C>A	NP_001361431.1:p.Gly36=
NM_001374503.1:c.108C>A	NP_001361432.1:p.Gly36=
NR_164653.1:n.598C>A
NR_164654.1:n.786C>A