Canonical Allele Identifier: CA360866135

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814566A>G (hg19) ; chr5:g.119478871A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478871A>G , CM000667.2:g.119478871A>G	GRCh38
NC_000005.9:g.118814566A>G , CM000667.1:g.118814566A>G	GRCh37
NC_000005.8:g.118842465A>G	NCBI36
NG_008182.1:g.31419A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.472A>G	ENSP00000426272.2:p.Asn158Asp
ENST00000518349.6:c.113-17672A>G	ENSP00000507185.1:n.113-17672A>G
ENST00000682445.1:c.*353A>G	ENSP00000508061.1:n.*353A>G
ENST00000682531.1:n.573A>G
ENST00000682626.1:c.500A>G	ENSP00000507857.1:p.Gln167Arg
ENST00000682996.1:c.472A>G	ENSP00000507792.1:p.Asn158Asp
ENST00000683265.1:n.565A>G
ENST00000683371.1:c.*602A>G	ENSP00000508376.1:n.*602A>G
ENST00000683390.1:n.2162A>G
ENST00000683549.1:n.393A>G
ENST00000683936.1:c.*357A>G	ENSP00000507721.1:n.*357A>G
ENST00000683974.1:n.554A>G
ENST00000683996.1:c.61A>G	ENSP00000507060.1:p.Asn21Asp
ENST00000684131.1:n.311A>G
ENST00000684160.1:c.*162A>G	ENSP00000507821.1:n.*162A>G
ENST00000684214.1:c.472A>G	ENSP00000508071.1:p.Asn158Asp
ENST00000414835.7:c.547A>G	ENSP00000411960.3:p.Asn183Asp
ENST00000510025.7:c.472A>G MANE Select	ENSP00000424940.3:p.Asn158Asp
ENST00000643250.1:c.*344A>G	ENSP00000494737.1:n.*344A>G
ENST00000644146.1:c.*50A>G	ENSP00000494808.1:n.*50A>G
ENST00000645099.1:c.31A>G	ENSP00000496091.1:p.Asn11Asp
ENST00000645702.1:c.61A>G	ENSP00000496432.1:p.Asn21Asp
ENST00000645832.1:c.*357A>G	ENSP00000494316.1:n.*357A>G
ENST00000646058.1:c.472A>G	ENSP00000493579.1:p.Asn158Asp
ENST00000646355.1:c.*478A>G	ENSP00000493801.1:n.*478A>G
ENST00000646554.1:c.*450A>G	ENSP00000494542.1:n.*450A>G
ENST00000646590.1:c.463A>G	ENSP00000494892.1:p.Asn155Asp
ENST00000647335.1:c.*439A>G	ENSP00000495180.1:n.*439A>G
ENST00000647342.1:c.*403A>G	ENSP00000494992.1:n.*403A>G
ENST00000256216.10:c.472A>G	ENSP00000256216.6:p.Asn158Asp
ENST00000414835.6:c.52A>G	ENSP00000411960.2:p.Asn18Asp
ENST00000442060.7:c.472A>G	ENSP00000390208.3:p.Asn158Asp
ENST00000503168.5:n.461A>G
ENST00000504811.5:c.547A>G	ENSP00000420914.1:p.Asn183Asp
ENST00000505181.5:n.175A>G
ENST00000508788.5:n.374A>G
ENST00000509514.5:c.-413A>G	ENSP00000426272.1:n.-413A>G
ENST00000510025.5:c.400A>G	ENSP00000424940.1:p.Asn134Asp
ENST00000512644.1:n.40A>G
ENST00000512841.5:n.520A>G
ENST00000513628.5:c.61A>G	ENSP00000425993.1:p.Asn21Asp
ENST00000515235.6:n.532A>G
ENST00000515320.5:c.418A>G	ENSP00000424613.1:p.Asn140Asp
NM_000414.3:c.472A>G	NP_000405.1:p.Asn158Asp
NM_001199291.2:c.547A>G	NP_001186220.1:p.Asn183Asp
NM_001199292.1:c.418A>G	NP_001186221.1:p.Asn140Asp
NM_001292027.1:c.400A>G	NP_001278956.1:p.Asn134Asp
NM_001292028.1:c.52A>G	NP_001278957.1:p.Asn18Asp
NM_000414.4:c.472A>G MANE Select	NP_000405.1:p.Asn158Asp
NM_001199291.3:c.547A>G	NP_001186220.1:p.Asn183Asp
NM_001199292.2:c.418A>G	NP_001186221.1:p.Asn140Asp
NM_001292027.2:c.400A>G	NP_001278956.1:p.Asn134Asp
NM_001292028.2:c.52A>G	NP_001278957.1:p.Asn18Asp
NM_001374497.1:c.463A>G	NP_001361426.1:p.Asn155Asp
NM_001374498.1:c.472A>G	NP_001361427.1:p.Asn158Asp
NM_001374499.1:c.145A>G	NP_001361428.1:p.Asn49Asp
NM_001374500.1:c.31A>G	NP_001361429.1:p.Asn11Asp
NM_001374501.1:c.61A>G	NP_001361430.1:p.Asn21Asp
NM_001374502.1:c.61A>G	NP_001361431.1:p.Asn21Asp
NM_001374503.1:c.61A>G	NP_001361432.1:p.Asn21Asp
NR_164653.1:n.551A>G
NR_164654.1:n.739A>G