Canonical Allele Identifier: CA360866238

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119478917-G-A
• MyVariant Identifiers: chr5:g.118814612G>A (hg19) ; chr5:g.119478917G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478917G>A , CM000667.2:g.119478917G>A	GRCh38
NC_000005.9:g.118814612G>A , CM000667.1:g.118814612G>A	GRCh37
NC_000005.8:g.118842511G>A	NCBI36
NG_008182.1:g.31465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.518G>A	ENSP00000426272.2:p.Gly173Asp
ENST00000518349.6:c.113-17626G>A	ENSP00000507185.1:n.113-17626G>A
ENST00000682445.1:c.*399G>A	ENSP00000508061.1:n.*399G>A
ENST00000682531.1:n.619G>A
ENST00000682626.1:c.*24G>A	ENSP00000507857.1:n.*24G>A
ENST00000682996.1:c.518G>A	ENSP00000507792.1:p.Gly173Asp
ENST00000683265.1:n.611G>A
ENST00000683371.1:c.*648G>A	ENSP00000508376.1:n.*648G>A
ENST00000683390.1:n.2208G>A
ENST00000683549.1:n.439G>A
ENST00000683936.1:c.*403G>A	ENSP00000507721.1:n.*403G>A
ENST00000683974.1:n.600G>A
ENST00000683996.1:c.107G>A	ENSP00000507060.1:p.Gly36Asp
ENST00000684131.1:n.357G>A
ENST00000684160.1:c.*208G>A	ENSP00000507821.1:n.*208G>A
ENST00000684214.1:c.518G>A	ENSP00000508071.1:p.Gly173Asp
ENST00000414835.7:c.593G>A	ENSP00000411960.3:p.Gly198Asp
ENST00000510025.7:c.518G>A MANE Select	ENSP00000424940.3:p.Gly173Asp
ENST00000643250.1:c.*390G>A	ENSP00000494737.1:n.*390G>A
ENST00000644146.1:c.*96G>A	ENSP00000494808.1:n.*96G>A
ENST00000645099.1:c.77G>A	ENSP00000496091.1:p.Gly26Asp
ENST00000645702.1:c.107G>A	ENSP00000496432.1:p.Gly36Asp
ENST00000645832.1:c.*403G>A	ENSP00000494316.1:n.*403G>A
ENST00000646058.1:c.518G>A	ENSP00000493579.1:p.Gly173Asp
ENST00000646355.1:c.*524G>A	ENSP00000493801.1:n.*524G>A
ENST00000646554.1:c.*496G>A	ENSP00000494542.1:n.*496G>A
ENST00000647335.1:c.*485G>A	ENSP00000495180.1:n.*485G>A
ENST00000647342.1:c.*449G>A	ENSP00000494992.1:n.*449G>A
ENST00000256216.10:c.518G>A	ENSP00000256216.6:p.Gly173Asp
ENST00000414835.6:c.98G>A	ENSP00000411960.2:p.Gly33Asp
ENST00000442060.7:c.518G>A	ENSP00000390208.3:p.Gly173Asp
ENST00000503168.5:n.507G>A
ENST00000504811.5:c.593G>A	ENSP00000420914.1:p.Gly198Asp
ENST00000505181.5:n.221G>A
ENST00000508788.5:n.420G>A
ENST00000509514.5:c.-367G>A	ENSP00000426272.1:n.-367G>A
ENST00000510025.5:c.446G>A	ENSP00000424940.1:p.Gly149Asp
ENST00000512644.1:n.86G>A
ENST00000512841.5:n.566G>A
ENST00000513628.5:c.107G>A	ENSP00000425993.1:p.Gly36Asp
ENST00000515235.6:n.578G>A
ENST00000515320.5:c.464G>A	ENSP00000424613.1:p.Gly155Asp
NM_000414.3:c.518G>A	NP_000405.1:p.Gly173Asp
NM_001199291.2:c.593G>A	NP_001186220.1:p.Gly198Asp
NM_001199292.1:c.464G>A	NP_001186221.1:p.Gly155Asp
NM_001292027.1:c.446G>A	NP_001278956.1:p.Gly149Asp
NM_001292028.1:c.98G>A	NP_001278957.1:p.Gly33Asp
NM_000414.4:c.518G>A MANE Select	NP_000405.1:p.Gly173Asp
NM_001199291.3:c.593G>A	NP_001186220.1:p.Gly198Asp
NM_001199292.2:c.464G>A	NP_001186221.1:p.Gly155Asp
NM_001292027.2:c.446G>A	NP_001278956.1:p.Gly149Asp
NM_001292028.2:c.98G>A	NP_001278957.1:p.Gly33Asp
NM_001374497.1:c.509G>A	NP_001361426.1:p.Gly170Asp
NM_001374498.1:c.518G>A	NP_001361427.1:p.Gly173Asp
NM_001374499.1:c.191G>A	NP_001361428.1:p.Gly64Asp
NM_001374500.1:c.77G>A	NP_001361429.1:p.Gly26Asp
NM_001374501.1:c.107G>A	NP_001361430.1:p.Gly36Asp
NM_001374502.1:c.107G>A	NP_001361431.1:p.Gly36Asp
NM_001374503.1:c.107G>A	NP_001361432.1:p.Gly36Asp
NR_164653.1:n.597G>A
NR_164654.1:n.785G>A