Canonical Allele Identifier: CA360866264

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119478929-C-A
• MyVariant Identifiers: chr5:g.118814624C>A (hg19) ; chr5:g.119478929C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478929C>A , CM000667.2:g.119478929C>A	GRCh38
NC_000005.9:g.118814624C>A , CM000667.1:g.118814624C>A	GRCh37
NC_000005.8:g.118842523C>A	NCBI36
NG_008182.1:g.31477C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.530C>A	ENSP00000426272.2:p.Ser177Tyr
ENST00000518349.6:c.113-17614C>A	ENSP00000507185.1:n.113-17614C>A
ENST00000682445.1:c.*411C>A	ENSP00000508061.1:n.*411C>A
ENST00000682531.1:n.631C>A
ENST00000682626.1:c.*36C>A	ENSP00000507857.1:n.*36C>A
ENST00000682996.1:c.530C>A	ENSP00000507792.1:p.Ser177Tyr
ENST00000683265.1:n.623C>A
ENST00000683371.1:c.*660C>A	ENSP00000508376.1:n.*660C>A
ENST00000683390.1:n.2220C>A
ENST00000683549.1:n.451C>A
ENST00000683936.1:c.*415C>A	ENSP00000507721.1:n.*415C>A
ENST00000683974.1:n.612C>A
ENST00000683996.1:c.119C>A	ENSP00000507060.1:p.Ser40Tyr
ENST00000684131.1:n.369C>A
ENST00000684160.1:c.*220C>A	ENSP00000507821.1:n.*220C>A
ENST00000684214.1:c.530C>A	ENSP00000508071.1:p.Ser177Tyr
ENST00000414835.7:c.605C>A	ENSP00000411960.3:p.Ser202Tyr
ENST00000510025.7:c.530C>A MANE Select	ENSP00000424940.3:p.Ser177Tyr
ENST00000643250.1:c.*402C>A	ENSP00000494737.1:n.*402C>A
ENST00000644146.1:c.*108C>A	ENSP00000494808.1:n.*108C>A
ENST00000645099.1:c.89C>A	ENSP00000496091.1:p.Ser30Tyr
ENST00000645702.1:c.119C>A	ENSP00000496432.1:p.Ser40Tyr
ENST00000645832.1:c.*415C>A	ENSP00000494316.1:n.*415C>A
ENST00000646058.1:c.530C>A	ENSP00000493579.1:p.Ser177Tyr
ENST00000646355.1:c.*536C>A	ENSP00000493801.1:n.*536C>A
ENST00000646554.1:c.*508C>A	ENSP00000494542.1:n.*508C>A
ENST00000647335.1:c.*497C>A	ENSP00000495180.1:n.*497C>A
ENST00000647342.1:c.*461C>A	ENSP00000494992.1:n.*461C>A
ENST00000256216.10:c.530C>A	ENSP00000256216.6:p.Ser177Tyr
ENST00000414835.6:c.110C>A	ENSP00000411960.2:p.Ser37Tyr
ENST00000442060.7:c.530C>A	ENSP00000390208.3:p.Ser177Tyr
ENST00000503168.5:n.519C>A
ENST00000504811.5:c.605C>A	ENSP00000420914.1:p.Ser202Tyr
ENST00000505181.5:n.233C>A
ENST00000508788.5:n.432C>A
ENST00000509514.5:c.-355C>A	ENSP00000426272.1:n.-355C>A
ENST00000510025.5:c.458C>A	ENSP00000424940.1:p.Ser153Tyr
ENST00000512644.1:n.98C>A
ENST00000512841.5:n.578C>A
ENST00000513628.5:c.119C>A	ENSP00000425993.1:p.Ser40Tyr
ENST00000515235.6:n.590C>A
ENST00000515320.5:c.476C>A	ENSP00000424613.1:p.Ser159Tyr
NM_000414.3:c.530C>A	NP_000405.1:p.Ser177Tyr
NM_001199291.2:c.605C>A	NP_001186220.1:p.Ser202Tyr
NM_001199292.1:c.476C>A	NP_001186221.1:p.Ser159Tyr
NM_001292027.1:c.458C>A	NP_001278956.1:p.Ser153Tyr
NM_001292028.1:c.110C>A	NP_001278957.1:p.Ser37Tyr
NM_000414.4:c.530C>A MANE Select	NP_000405.1:p.Ser177Tyr
NM_001199291.3:c.605C>A	NP_001186220.1:p.Ser202Tyr
NM_001199292.2:c.476C>A	NP_001186221.1:p.Ser159Tyr
NM_001292027.2:c.458C>A	NP_001278956.1:p.Ser153Tyr
NM_001292028.2:c.110C>A	NP_001278957.1:p.Ser37Tyr
NM_001374497.1:c.521C>A	NP_001361426.1:p.Ser174Tyr
NM_001374498.1:c.530C>A	NP_001361427.1:p.Ser177Tyr
NM_001374499.1:c.203C>A	NP_001361428.1:p.Ser68Tyr
NM_001374500.1:c.89C>A	NP_001361429.1:p.Ser30Tyr
NM_001374501.1:c.119C>A	NP_001361430.1:p.Ser40Tyr
NM_001374502.1:c.119C>A	NP_001361431.1:p.Ser40Tyr
NM_001374503.1:c.119C>A	NP_001361432.1:p.Ser40Tyr
NR_164653.1:n.609C>A
NR_164654.1:n.797C>A