Canonical Allele Identifier: CA360866343

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814661T>A (hg19) ; chr5:g.119478966T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478966T>A , CM000667.2:g.119478966T>A	GRCh38
NC_000005.9:g.118814661T>A , CM000667.1:g.118814661T>A	GRCh37
NC_000005.8:g.118842560T>A	NCBI36
NG_008182.1:g.31514T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.567T>A	ENSP00000426272.2:p.Cys189Ter
ENST00000518349.6:c.113-17577T>A	ENSP00000507185.1:n.113-17577T>A
ENST00000682445.1:c.*448T>A	ENSP00000508061.1:n.*448T>A
ENST00000682531.1:n.668T>A
ENST00000682626.1:c.*73T>A	ENSP00000507857.1:n.*73T>A
ENST00000682996.1:c.567T>A	ENSP00000507792.1:p.Cys189Ter
ENST00000683265.1:n.660T>A
ENST00000683371.1:c.*697T>A	ENSP00000508376.1:n.*697T>A
ENST00000683390.1:n.2257T>A
ENST00000683549.1:n.488T>A
ENST00000683936.1:c.*452T>A	ENSP00000507721.1:n.*452T>A
ENST00000683974.1:n.649T>A
ENST00000683996.1:c.156T>A	ENSP00000507060.1:p.Cys52Ter
ENST00000684131.1:n.406T>A
ENST00000684160.1:c.*257T>A	ENSP00000507821.1:n.*257T>A
ENST00000684214.1:c.567T>A	ENSP00000508071.1:p.Cys189Ter
ENST00000414835.7:c.642T>A	ENSP00000411960.3:p.Cys214Ter
ENST00000510025.7:c.567T>A MANE Select	ENSP00000424940.3:p.Cys189Ter
ENST00000643250.1:c.*439T>A	ENSP00000494737.1:n.*439T>A
ENST00000644146.1:c.*145T>A	ENSP00000494808.1:n.*145T>A
ENST00000645099.1:c.126T>A	ENSP00000496091.1:p.Cys42Ter
ENST00000645702.1:c.156T>A	ENSP00000496432.1:p.Cys52Ter
ENST00000645832.1:c.*452T>A	ENSP00000494316.1:n.*452T>A
ENST00000646058.1:c.567T>A	ENSP00000493579.1:p.Cys189Ter
ENST00000646355.1:c.*573T>A	ENSP00000493801.1:n.*573T>A
ENST00000646554.1:c.*545T>A	ENSP00000494542.1:n.*545T>A
ENST00000647335.1:c.*534T>A	ENSP00000495180.1:n.*534T>A
ENST00000647342.1:c.*498T>A	ENSP00000494992.1:n.*498T>A
ENST00000256216.10:c.567T>A	ENSP00000256216.6:p.Cys189Ter
ENST00000414835.6:c.147T>A	ENSP00000411960.2:p.Cys49Ter
ENST00000442060.7:c.567T>A	ENSP00000390208.3:p.Cys189Ter
ENST00000503168.5:n.556T>A
ENST00000504811.5:c.642T>A	ENSP00000420914.1:p.Cys214Ter
ENST00000505181.5:n.270T>A
ENST00000509514.5:c.-318T>A	ENSP00000426272.1:n.-318T>A
ENST00000510025.5:c.495T>A	ENSP00000424940.1:p.Cys165Ter
ENST00000512644.1:n.135T>A
ENST00000513628.5:c.156T>A	ENSP00000425993.1:p.Cys52Ter
ENST00000515235.6:n.627T>A
ENST00000515320.5:c.513T>A	ENSP00000424613.1:p.Cys171Ter
NM_000414.3:c.567T>A	NP_000405.1:p.Cys189Ter
NM_001199291.2:c.642T>A	NP_001186220.1:p.Cys214Ter
NM_001199292.1:c.513T>A	NP_001186221.1:p.Cys171Ter
NM_001292027.1:c.495T>A	NP_001278956.1:p.Cys165Ter
NM_001292028.1:c.147T>A	NP_001278957.1:p.Cys49Ter
NM_000414.4:c.567T>A MANE Select	NP_000405.1:p.Cys189Ter
NM_001199291.3:c.642T>A	NP_001186220.1:p.Cys214Ter
NM_001199292.2:c.513T>A	NP_001186221.1:p.Cys171Ter
NM_001292027.2:c.495T>A	NP_001278956.1:p.Cys165Ter
NM_001292028.2:c.147T>A	NP_001278957.1:p.Cys49Ter
NM_001374497.1:c.558T>A	NP_001361426.1:p.Cys186Ter
NM_001374498.1:c.567T>A	NP_001361427.1:p.Cys189Ter
NM_001374499.1:c.240T>A	NP_001361428.1:p.Cys80Ter
NM_001374500.1:c.126T>A	NP_001361429.1:p.Cys42Ter
NM_001374501.1:c.156T>A	NP_001361430.1:p.Cys52Ter
NM_001374502.1:c.156T>A	NP_001361431.1:p.Cys52Ter
NM_001374503.1:c.156T>A	NP_001361432.1:p.Cys52Ter
NR_164653.1:n.646T>A
NR_164654.1:n.834T>A