Canonical Allele Identifier: CA360866098

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814549C>A (hg19) ; chr5:g.119478854C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478854C>A , CM000667.2:g.119478854C>A	GRCh38
NC_000005.9:g.118814549C>A , CM000667.1:g.118814549C>A	GRCh37
NC_000005.8:g.118842448C>A	NCBI36
NG_008182.1:g.31402C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.455C>A	ENSP00000426272.2:p.Ala152Asp
ENST00000518349.6:c.113-17689C>A	ENSP00000507185.1:n.113-17689C>A
ENST00000682445.1:c.*336C>A	ENSP00000508061.1:n.*336C>A
ENST00000682531.1:n.556C>A
ENST00000682626.1:c.483C>A	ENSP00000507857.1:p.Ser161Arg
ENST00000682996.1:c.455C>A	ENSP00000507792.1:p.Ala152Asp
ENST00000683265.1:n.548C>A
ENST00000683371.1:c.*585C>A	ENSP00000508376.1:n.*585C>A
ENST00000683390.1:n.2145C>A
ENST00000683549.1:n.376C>A
ENST00000683936.1:c.*340C>A	ENSP00000507721.1:n.*340C>A
ENST00000683974.1:n.537C>A
ENST00000683996.1:c.44C>A	ENSP00000507060.1:p.Ala15Asp
ENST00000684131.1:n.294C>A
ENST00000684160.1:c.*145C>A	ENSP00000507821.1:n.*145C>A
ENST00000684214.1:c.455C>A	ENSP00000508071.1:p.Ala152Asp
ENST00000414835.7:c.530C>A	ENSP00000411960.3:p.Ala177Asp
ENST00000510025.7:c.455C>A MANE Select	ENSP00000424940.3:p.Ala152Asp
ENST00000643250.1:c.*327C>A	ENSP00000494737.1:n.*327C>A
ENST00000644146.1:c.*33C>A	ENSP00000494808.1:n.*33C>A
ENST00000645099.1:c.14C>A	ENSP00000496091.1:p.Ala5Asp
ENST00000645702.1:c.44C>A	ENSP00000496432.1:p.Ala15Asp
ENST00000645832.1:c.*340C>A	ENSP00000494316.1:n.*340C>A
ENST00000646058.1:c.455C>A	ENSP00000493579.1:p.Ala152Asp
ENST00000646355.1:c.*461C>A	ENSP00000493801.1:n.*461C>A
ENST00000646554.1:c.*433C>A	ENSP00000494542.1:n.*433C>A
ENST00000646590.1:c.446C>A	ENSP00000494892.1:p.Ala149Asp
ENST00000647335.1:c.*422C>A	ENSP00000495180.1:n.*422C>A
ENST00000647342.1:c.*386C>A	ENSP00000494992.1:n.*386C>A
ENST00000256216.10:c.455C>A	ENSP00000256216.6:p.Ala152Asp
ENST00000414835.6:c.35C>A	ENSP00000411960.2:p.Ala12Asp
ENST00000442060.7:c.455C>A	ENSP00000390208.3:p.Ala152Asp
ENST00000503168.5:n.444C>A
ENST00000504811.5:c.530C>A	ENSP00000420914.1:p.Ala177Asp
ENST00000505181.5:n.158C>A
ENST00000508788.5:n.357C>A
ENST00000509514.5:c.-430C>A	ENSP00000426272.1:n.-430C>A
ENST00000510025.5:c.383C>A	ENSP00000424940.1:p.Ala128Asp
ENST00000512644.1:n.23C>A
ENST00000512841.5:n.503C>A
ENST00000513628.5:c.44C>A	ENSP00000425993.1:p.Ala15Asp
ENST00000515235.6:n.515C>A
ENST00000515320.5:c.401C>A	ENSP00000424613.1:p.Ala134Asp
NM_000414.3:c.455C>A	NP_000405.1:p.Ala152Asp
NM_001199291.2:c.530C>A	NP_001186220.1:p.Ala177Asp
NM_001199292.1:c.401C>A	NP_001186221.1:p.Ala134Asp
NM_001292027.1:c.383C>A	NP_001278956.1:p.Ala128Asp
NM_001292028.1:c.35C>A	NP_001278957.1:p.Ala12Asp
NM_000414.4:c.455C>A MANE Select	NP_000405.1:p.Ala152Asp
NM_001199291.3:c.530C>A	NP_001186220.1:p.Ala177Asp
NM_001199292.2:c.401C>A	NP_001186221.1:p.Ala134Asp
NM_001292027.2:c.383C>A	NP_001278956.1:p.Ala128Asp
NM_001292028.2:c.35C>A	NP_001278957.1:p.Ala12Asp
NM_001374497.1:c.446C>A	NP_001361426.1:p.Ala149Asp
NM_001374498.1:c.455C>A	NP_001361427.1:p.Ala152Asp
NM_001374499.1:c.128C>A	NP_001361428.1:p.Ala43Asp
NM_001374500.1:c.14C>A	NP_001361429.1:p.Ala5Asp
NM_001374501.1:c.44C>A	NP_001361430.1:p.Ala15Asp
NM_001374502.1:c.44C>A	NP_001361431.1:p.Ala15Asp
NM_001374503.1:c.44C>A	NP_001361432.1:p.Ala15Asp
NR_164653.1:n.534C>A
NR_164654.1:n.722C>A