Canonical Allele Identifier: CA360864903

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118811419C>T (hg19) ; chr5:g.119475724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119475724C>T , CM000667.2:g.119475724C>T	GRCh38
NC_000005.9:g.118811419C>T , CM000667.1:g.118811419C>T	GRCh37
NC_000005.8:g.118839318C>T	NCBI36
NG_008182.1:g.28272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.299C>T	ENSP00000426272.2:p.Ala100Val
ENST00000518349.6:c.112+19356C>T	ENSP00000507185.1:n.112+19356C>T
ENST00000682445.1:c.*180C>T	ENSP00000508061.1:n.*180C>T
ENST00000682531.1:n.400C>T
ENST00000682626.1:c.374C>T	ENSP00000507857.1:p.Ala125Val
ENST00000682996.1:c.299C>T	ENSP00000507792.1:p.Ala100Val
ENST00000683265.1:n.392C>T
ENST00000683371.1:c.*429C>T	ENSP00000508376.1:n.*429C>T
ENST00000683390.1:n.347C>T
ENST00000683936.1:c.*184C>T	ENSP00000507721.1:n.*184C>T
ENST00000683974.1:n.381C>T
ENST00000684160.1:c.374C>T	ENSP00000507821.1:p.Ala125Val
ENST00000684214.1:c.299C>T	ENSP00000508071.1:p.Ala100Val
ENST00000414835.7:c.374C>T	ENSP00000411960.3:p.Ala125Val
ENST00000510025.7:c.299C>T MANE Select	ENSP00000424940.3:p.Ala100Val
ENST00000643250.1:c.*180C>T	ENSP00000494737.1:n.*180C>T
ENST00000644146.1:c.299C>T	ENSP00000494808.1:p.Ala100Val
ENST00000645832.1:c.*184C>T	ENSP00000494316.1:n.*184C>T
ENST00000646058.1:c.299C>T	ENSP00000493579.1:p.Ala100Val
ENST00000646355.1:c.*305C>T	ENSP00000493801.1:n.*305C>T
ENST00000646554.1:c.*180C>T	ENSP00000494542.1:n.*180C>T
ENST00000646590.1:c.299C>T	ENSP00000494892.1:p.Ala100Val
ENST00000647335.1:c.*266C>T	ENSP00000495180.1:n.*266C>T
ENST00000647342.1:c.*180C>T	ENSP00000494992.1:n.*180C>T
ENST00000256216.10:c.299C>T	ENSP00000256216.6:p.Ala100Val
ENST00000414835.6:c.-113C>T	ENSP00000411960.2:n.-113C>T
ENST00000442060.7:c.299C>T	ENSP00000390208.3:p.Ala100Val
ENST00000503168.5:n.288C>T
ENST00000504811.5:c.374C>T	ENSP00000420914.1:p.Ala125Val
ENST00000507695.1:n.271C>T
ENST00000510025.5:c.227C>T	ENSP00000424940.1:p.Ala76Val
ENST00000511186.5:n.430C>T
ENST00000512841.5:n.347C>T
ENST00000515235.6:n.359C>T
ENST00000515320.5:c.245C>T	ENSP00000424613.1:p.Ala82Val
NM_000414.3:c.299C>T	NP_000405.1:p.Ala100Val
NM_001199291.2:c.374C>T	NP_001186220.1:p.Ala125Val
NM_001199292.1:c.245C>T	NP_001186221.1:p.Ala82Val
NM_001292027.1:c.227C>T	NP_001278956.1:p.Ala76Val
NM_001292028.1:c.-113C>T	NP_001278957.1:n.-113C>T
NM_000414.4:c.299C>T MANE Select	NP_000405.1:p.Ala100Val
NM_001199291.3:c.374C>T	NP_001186220.1:p.Ala125Val
NM_001199292.2:c.245C>T	NP_001186221.1:p.Ala82Val
NM_001292027.2:c.227C>T	NP_001278956.1:p.Ala76Val
NM_001292028.2:c.-113C>T	NP_001278957.1:n.-113C>T
NM_001374497.1:c.299C>T	NP_001361426.1:p.Ala100Val
NM_001374498.1:c.299C>T	NP_001361427.1:p.Ala100Val
NM_001374499.1:c.19C>T	NP_001361428.1:p.Leu7=
NM_001374500.1:c.-240C>T	NP_001361429.1:n.-240C>T
NM_001374501.1:c.-113C>T	NP_001361430.1:n.-113C>T
NM_001374502.1:c.-113C>T	NP_001361431.1:n.-113C>T
NM_001374503.1:c.-113C>T	NP_001361432.1:n.-113C>T
NR_164653.1:n.378C>T
NR_164654.1:n.566C>T