Canonical Allele Identifier: CA446041478

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119478903-G-A
• MyVariant Identifiers: chr5:g.118814598G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478903G>A , CM000667.2:g.119478903G>A	GRCh38
NC_000005.9:g.118814598G>A , CM000667.1:g.118814598G>A	GRCh37
NC_000005.8:g.118842497G>A	NCBI36
NG_008182.1:g.31451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.504G>A	ENSP00000426272.2:p.Lys168=
ENST00000518349.6:c.113-17640G>A	ENSP00000507185.1:n.113-17640G>A
ENST00000682445.1:c.*385G>A	ENSP00000508061.1:n.*385G>A
ENST00000682531.1:n.605G>A
ENST00000682626.1:c.*10G>A	ENSP00000507857.1:n.*10G>A
ENST00000682996.1:c.504G>A	ENSP00000507792.1:p.Lys168=
ENST00000683265.1:n.597G>A
ENST00000683371.1:c.*634G>A	ENSP00000508376.1:n.*634G>A
ENST00000683390.1:n.2194G>A
ENST00000683549.1:n.425G>A
ENST00000683936.1:c.*389G>A	ENSP00000507721.1:n.*389G>A
ENST00000683974.1:n.586G>A
ENST00000683996.1:c.93G>A	ENSP00000507060.1:p.Lys31=
ENST00000684131.1:n.343G>A
ENST00000684160.1:c.*194G>A	ENSP00000507821.1:n.*194G>A
ENST00000684214.1:c.504G>A	ENSP00000508071.1:p.Lys168=
ENST00000414835.7:c.579G>A	ENSP00000411960.3:p.Lys193=
ENST00000510025.7:c.504G>A MANE Select	ENSP00000424940.3:p.Lys168=
ENST00000643250.1:c.*376G>A	ENSP00000494737.1:n.*376G>A
ENST00000644146.1:c.*82G>A	ENSP00000494808.1:n.*82G>A
ENST00000645099.1:c.63G>A	ENSP00000496091.1:p.Lys21=
ENST00000645702.1:c.93G>A	ENSP00000496432.1:p.Lys31=
ENST00000645832.1:c.*389G>A	ENSP00000494316.1:n.*389G>A
ENST00000646058.1:c.504G>A	ENSP00000493579.1:p.Lys168=
ENST00000646355.1:c.*510G>A	ENSP00000493801.1:n.*510G>A
ENST00000646554.1:c.*482G>A	ENSP00000494542.1:n.*482G>A
ENST00000646590.1:c.495G>A	ENSP00000494892.1:p.Lys165=
ENST00000647335.1:c.*471G>A	ENSP00000495180.1:n.*471G>A
ENST00000647342.1:c.*435G>A	ENSP00000494992.1:n.*435G>A
ENST00000256216.10:c.504G>A	ENSP00000256216.6:p.Lys168=
ENST00000414835.6:c.84G>A	ENSP00000411960.2:p.Lys28=
ENST00000442060.7:c.504G>A	ENSP00000390208.3:p.Lys168=
ENST00000503168.5:n.493G>A
ENST00000504811.5:c.579G>A	ENSP00000420914.1:p.Lys193=
ENST00000505181.5:n.207G>A
ENST00000508788.5:n.406G>A
ENST00000509514.5:c.-381G>A	ENSP00000426272.1:n.-381G>A
ENST00000510025.5:c.432G>A	ENSP00000424940.1:p.Lys144=
ENST00000512644.1:n.72G>A
ENST00000512841.5:n.552G>A
ENST00000513628.5:c.93G>A	ENSP00000425993.1:p.Lys31=
ENST00000515235.6:n.564G>A
ENST00000515320.5:c.450G>A	ENSP00000424613.1:p.Lys150=
NM_000414.3:c.504G>A	NP_000405.1:p.Lys168=
NM_001199291.2:c.579G>A	NP_001186220.1:p.Lys193=
NM_001199292.1:c.450G>A	NP_001186221.1:p.Lys150=
NM_001292027.1:c.432G>A	NP_001278956.1:p.Lys144=
NM_001292028.1:c.84G>A	NP_001278957.1:p.Lys28=
NM_000414.4:c.504G>A MANE Select	NP_000405.1:p.Lys168=
NM_001199291.3:c.579G>A	NP_001186220.1:p.Lys193=
NM_001199292.2:c.450G>A	NP_001186221.1:p.Lys150=
NM_001292027.2:c.432G>A	NP_001278956.1:p.Lys144=
NM_001292028.2:c.84G>A	NP_001278957.1:p.Lys28=
NM_001374497.1:c.495G>A	NP_001361426.1:p.Lys165=
NM_001374498.1:c.504G>A	NP_001361427.1:p.Lys168=
NM_001374499.1:c.177G>A	NP_001361428.1:p.Lys59=
NM_001374500.1:c.63G>A	NP_001361429.1:p.Lys21=
NM_001374501.1:c.93G>A	NP_001361430.1:p.Lys31=
NM_001374502.1:c.93G>A	NP_001361431.1:p.Lys31=
NM_001374503.1:c.93G>A	NP_001361432.1:p.Lys31=
NR_164653.1:n.583G>A
NR_164654.1:n.771G>A