Canonical Allele Identifier: CA360864971

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119475850-G-A
• MyVariant Identifiers: chr5:g.118811545G>A (hg19) ; chr5:g.119475850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119475850G>A , CM000667.2:g.119475850G>A	GRCh38
NC_000005.9:g.118811545G>A , CM000667.1:g.118811545G>A	GRCh37
NC_000005.8:g.118839444G>A	NCBI36
NG_008182.1:g.28398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.329G>A	ENSP00000426272.2:p.Arg110Lys
ENST00000518349.6:c.112+19482G>A	ENSP00000507185.1:n.112+19482G>A
ENST00000682445.1:c.*210G>A	ENSP00000508061.1:n.*210G>A
ENST00000682531.1:n.430G>A
ENST00000682626.1:c.377+123G>A	ENSP00000507857.1:n.377+123G>A
ENST00000682996.1:c.329G>A	ENSP00000507792.1:p.Arg110Lys
ENST00000683265.1:n.422G>A
ENST00000683371.1:c.*459G>A	ENSP00000508376.1:n.*459G>A
ENST00000683390.1:n.473G>A
ENST00000683936.1:c.*214G>A	ENSP00000507721.1:n.*214G>A
ENST00000683974.1:n.411G>A
ENST00000684160.1:c.404G>A	ENSP00000507821.1:p.Arg135Lys
ENST00000684214.1:c.329G>A	ENSP00000508071.1:p.Arg110Lys
ENST00000414835.7:c.404G>A	ENSP00000411960.3:p.Arg135Lys
ENST00000510025.7:c.329G>A MANE Select	ENSP00000424940.3:p.Arg110Lys
ENST00000643250.1:c.*210G>A	ENSP00000494737.1:n.*210G>A
ENST00000644146.1:c.329G>A	ENSP00000494808.1:p.Arg110Lys
ENST00000645832.1:c.*214G>A	ENSP00000494316.1:n.*214G>A
ENST00000646058.1:c.329G>A	ENSP00000493579.1:p.Arg110Lys
ENST00000646355.1:c.*335G>A	ENSP00000493801.1:n.*335G>A
ENST00000646554.1:c.*210G>A	ENSP00000494542.1:n.*210G>A
ENST00000646590.1:c.329G>A	ENSP00000494892.1:p.Arg110Lys
ENST00000647335.1:c.*296G>A	ENSP00000495180.1:n.*296G>A
ENST00000647342.1:c.*210G>A	ENSP00000494992.1:n.*210G>A
ENST00000256216.10:c.329G>A	ENSP00000256216.6:p.Arg110Lys
ENST00000414835.6:c.-83G>A	ENSP00000411960.2:n.-83G>A
ENST00000442060.7:c.329G>A	ENSP00000390208.3:p.Arg110Lys
ENST00000503168.5:n.318G>A
ENST00000504811.5:c.404G>A	ENSP00000420914.1:p.Arg135Lys
ENST00000507695.1:n.301G>A
ENST00000510025.5:c.257G>A	ENSP00000424940.1:p.Arg86Lys
ENST00000511186.5:n.460G>A
ENST00000512841.5:n.377G>A
ENST00000515235.6:n.389G>A
ENST00000515320.5:c.275G>A	ENSP00000424613.1:p.Arg92Lys
NM_000414.3:c.329G>A	NP_000405.1:p.Arg110Lys
NM_001199291.2:c.404G>A	NP_001186220.1:p.Arg135Lys
NM_001199292.1:c.275G>A	NP_001186221.1:p.Arg92Lys
NM_001292027.1:c.257G>A	NP_001278956.1:p.Arg86Lys
NM_001292028.1:c.-83G>A	NP_001278957.1:n.-83G>A
NM_000414.4:c.329G>A MANE Select	NP_000405.1:p.Arg110Lys
NM_001199291.3:c.404G>A	NP_001186220.1:p.Arg135Lys
NM_001199292.2:c.275G>A	NP_001186221.1:p.Arg92Lys
NM_001292027.2:c.257G>A	NP_001278956.1:p.Arg86Lys
NM_001292028.2:c.-83G>A	NP_001278957.1:n.-83G>A
NM_001374497.1:c.329G>A	NP_001361426.1:p.Arg110Lys
NM_001374498.1:c.329G>A	NP_001361427.1:p.Arg110Lys
NM_001374499.1:c.22+123G>A	NP_001361428.1:n.22+123G>A
NM_001374500.1:c.-210G>A	NP_001361429.1:n.-210G>A
NM_001374501.1:c.-83G>A	NP_001361430.1:n.-83G>A
NM_001374502.1:c.-83G>A	NP_001361431.1:n.-83G>A
NM_001374503.1:c.-83G>A	NP_001361432.1:n.-83G>A
NR_164653.1:n.408G>A
NR_164654.1:n.596G>A