Canonical Allele Identifier: CA446040835

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118811543T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119475848T>G , CM000667.2:g.119475848T>G	GRCh38
NC_000005.9:g.118811543T>G , CM000667.1:g.118811543T>G	GRCh37
NC_000005.8:g.118839442T>G	NCBI36
NG_008182.1:g.28396T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.327T>G	ENSP00000426272.2:p.Ala109=
ENST00000518349.6:c.112+19480T>G	ENSP00000507185.1:n.112+19480T>G
ENST00000682445.1:c.*208T>G	ENSP00000508061.1:n.*208T>G
ENST00000682531.1:n.428T>G
ENST00000682626.1:c.377+121T>G	ENSP00000507857.1:n.377+121T>G
ENST00000682996.1:c.327T>G	ENSP00000507792.1:p.Ala109=
ENST00000683265.1:n.420T>G
ENST00000683371.1:c.*457T>G	ENSP00000508376.1:n.*457T>G
ENST00000683390.1:n.471T>G
ENST00000683936.1:c.*212T>G	ENSP00000507721.1:n.*212T>G
ENST00000683974.1:n.409T>G
ENST00000684160.1:c.402T>G	ENSP00000507821.1:p.Ala134=
ENST00000684214.1:c.327T>G	ENSP00000508071.1:p.Ala109=
ENST00000414835.7:c.402T>G	ENSP00000411960.3:p.Ala134=
ENST00000510025.7:c.327T>G MANE Select	ENSP00000424940.3:p.Ala109=
ENST00000643250.1:c.*208T>G	ENSP00000494737.1:n.*208T>G
ENST00000644146.1:c.327T>G	ENSP00000494808.1:p.Ala109=
ENST00000645832.1:c.*212T>G	ENSP00000494316.1:n.*212T>G
ENST00000646058.1:c.327T>G	ENSP00000493579.1:p.Ala109=
ENST00000646355.1:c.*333T>G	ENSP00000493801.1:n.*333T>G
ENST00000646554.1:c.*208T>G	ENSP00000494542.1:n.*208T>G
ENST00000646590.1:c.327T>G	ENSP00000494892.1:p.Ala109=
ENST00000647335.1:c.*294T>G	ENSP00000495180.1:n.*294T>G
ENST00000647342.1:c.*208T>G	ENSP00000494992.1:n.*208T>G
ENST00000256216.10:c.327T>G	ENSP00000256216.6:p.Ala109=
ENST00000414835.6:c.-85T>G	ENSP00000411960.2:n.-85T>G
ENST00000442060.7:c.327T>G	ENSP00000390208.3:p.Ala109=
ENST00000503168.5:n.316T>G
ENST00000504811.5:c.402T>G	ENSP00000420914.1:p.Ala134=
ENST00000507695.1:n.299T>G
ENST00000510025.5:c.255T>G	ENSP00000424940.1:p.Ala85=
ENST00000511186.5:n.458T>G
ENST00000512841.5:n.375T>G
ENST00000515235.6:n.387T>G
ENST00000515320.5:c.273T>G	ENSP00000424613.1:p.Ala91=
NM_000414.3:c.327T>G	NP_000405.1:p.Ala109=
NM_001199291.2:c.402T>G	NP_001186220.1:p.Ala134=
NM_001199292.1:c.273T>G	NP_001186221.1:p.Ala91=
NM_001292027.1:c.255T>G	NP_001278956.1:p.Ala85=
NM_001292028.1:c.-85T>G	NP_001278957.1:n.-85T>G
NM_000414.4:c.327T>G MANE Select	NP_000405.1:p.Ala109=
NM_001199291.3:c.402T>G	NP_001186220.1:p.Ala134=
NM_001199292.2:c.273T>G	NP_001186221.1:p.Ala91=
NM_001292027.2:c.255T>G	NP_001278956.1:p.Ala85=
NM_001292028.2:c.-85T>G	NP_001278957.1:n.-85T>G
NM_001374497.1:c.327T>G	NP_001361426.1:p.Ala109=
NM_001374498.1:c.327T>G	NP_001361427.1:p.Ala109=
NM_001374499.1:c.22+121T>G	NP_001361428.1:n.22+121T>G
NM_001374500.1:c.-212T>G	NP_001361429.1:n.-212T>G
NM_001374501.1:c.-85T>G	NP_001361430.1:n.-85T>G
NM_001374502.1:c.-85T>G	NP_001361431.1:n.-85T>G
NM_001374503.1:c.-85T>G	NP_001361432.1:n.-85T>G
NR_164653.1:n.406T>G
NR_164654.1:n.594T>G