Canonical Allele Identifier: CA360866090

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814545T>G (hg19) ; chr5:g.119478850T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478850T>G , CM000667.2:g.119478850T>G	GRCh38
NC_000005.9:g.118814545T>G , CM000667.1:g.118814545T>G	GRCh37
NC_000005.8:g.118842444T>G	NCBI36
NG_008182.1:g.31398T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.451T>G	ENSP00000426272.2:p.Ser151Ala
ENST00000518349.6:c.113-17693T>G	ENSP00000507185.1:n.113-17693T>G
ENST00000682445.1:c.*332T>G	ENSP00000508061.1:n.*332T>G
ENST00000682531.1:n.552T>G
ENST00000682626.1:c.479T>G	ENSP00000507857.1:p.Ile160Ser
ENST00000682996.1:c.451T>G	ENSP00000507792.1:p.Ser151Ala
ENST00000683265.1:n.544T>G
ENST00000683371.1:c.*581T>G	ENSP00000508376.1:n.*581T>G
ENST00000683390.1:n.2141T>G
ENST00000683549.1:n.372T>G
ENST00000683936.1:c.*336T>G	ENSP00000507721.1:n.*336T>G
ENST00000683974.1:n.533T>G
ENST00000683996.1:c.40T>G	ENSP00000507060.1:p.Ser14Ala
ENST00000684131.1:n.290T>G
ENST00000684160.1:c.*141T>G	ENSP00000507821.1:n.*141T>G
ENST00000684214.1:c.451T>G	ENSP00000508071.1:p.Ser151Ala
ENST00000414835.7:c.526T>G	ENSP00000411960.3:p.Ser176Ala
ENST00000510025.7:c.451T>G MANE Select	ENSP00000424940.3:p.Ser151Ala
ENST00000643250.1:c.*323T>G	ENSP00000494737.1:n.*323T>G
ENST00000644146.1:c.*29T>G	ENSP00000494808.1:n.*29T>G
ENST00000645099.1:c.10T>G	ENSP00000496091.1:p.Ser4Ala
ENST00000645702.1:c.40T>G	ENSP00000496432.1:p.Ser14Ala
ENST00000645832.1:c.*336T>G	ENSP00000494316.1:n.*336T>G
ENST00000646058.1:c.451T>G	ENSP00000493579.1:p.Ser151Ala
ENST00000646355.1:c.*457T>G	ENSP00000493801.1:n.*457T>G
ENST00000646554.1:c.*429T>G	ENSP00000494542.1:n.*429T>G
ENST00000646590.1:c.442T>G	ENSP00000494892.1:p.Ser148Ala
ENST00000647335.1:c.*418T>G	ENSP00000495180.1:n.*418T>G
ENST00000647342.1:c.*382T>G	ENSP00000494992.1:n.*382T>G
ENST00000256216.10:c.451T>G	ENSP00000256216.6:p.Ser151Ala
ENST00000414835.6:c.31T>G	ENSP00000411960.2:p.Ser11Ala
ENST00000442060.7:c.451T>G	ENSP00000390208.3:p.Ser151Ala
ENST00000503168.5:n.440T>G
ENST00000504811.5:c.526T>G	ENSP00000420914.1:p.Ser176Ala
ENST00000505181.5:n.154T>G
ENST00000508788.5:n.353T>G
ENST00000509514.5:c.-434T>G	ENSP00000426272.1:n.-434T>G
ENST00000510025.5:c.379T>G	ENSP00000424940.1:p.Ser127Ala
ENST00000512644.1:n.19T>G
ENST00000512841.5:n.499T>G
ENST00000513628.5:c.40T>G	ENSP00000425993.1:p.Ser14Ala
ENST00000515235.6:n.511T>G
ENST00000515320.5:c.397T>G	ENSP00000424613.1:p.Ser133Ala
NM_000414.3:c.451T>G	NP_000405.1:p.Ser151Ala
NM_001199291.2:c.526T>G	NP_001186220.1:p.Ser176Ala
NM_001199292.1:c.397T>G	NP_001186221.1:p.Ser133Ala
NM_001292027.1:c.379T>G	NP_001278956.1:p.Ser127Ala
NM_001292028.1:c.31T>G	NP_001278957.1:p.Ser11Ala
NM_000414.4:c.451T>G MANE Select	NP_000405.1:p.Ser151Ala
NM_001199291.3:c.526T>G	NP_001186220.1:p.Ser176Ala
NM_001199292.2:c.397T>G	NP_001186221.1:p.Ser133Ala
NM_001292027.2:c.379T>G	NP_001278956.1:p.Ser127Ala
NM_001292028.2:c.31T>G	NP_001278957.1:p.Ser11Ala
NM_001374497.1:c.442T>G	NP_001361426.1:p.Ser148Ala
NM_001374498.1:c.451T>G	NP_001361427.1:p.Ser151Ala
NM_001374499.1:c.124T>G	NP_001361428.1:p.Ser42Ala
NM_001374500.1:c.10T>G	NP_001361429.1:p.Ser4Ala
NM_001374501.1:c.40T>G	NP_001361430.1:p.Ser14Ala
NM_001374502.1:c.40T>G	NP_001361431.1:p.Ser14Ala
NM_001374503.1:c.40T>G	NP_001361432.1:p.Ser14Ala
NR_164653.1:n.530T>G
NR_164654.1:n.718T>G