Canonical Allele Identifier: CA360866278

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814632A>T (hg19) ; chr5:g.119478937A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478937A>T , CM000667.2:g.119478937A>T	GRCh38
NC_000005.9:g.118814632A>T , CM000667.1:g.118814632A>T	GRCh37
NC_000005.8:g.118842531A>T	NCBI36
NG_008182.1:g.31485A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.538A>T	ENSP00000426272.2:p.Ile180Phe
ENST00000518349.6:c.113-17606A>T	ENSP00000507185.1:n.113-17606A>T
ENST00000682445.1:c.*419A>T	ENSP00000508061.1:n.*419A>T
ENST00000682531.1:n.639A>T
ENST00000682626.1:c.*44A>T	ENSP00000507857.1:n.*44A>T
ENST00000682996.1:c.538A>T	ENSP00000507792.1:p.Ile180Phe
ENST00000683265.1:n.631A>T
ENST00000683371.1:c.*668A>T	ENSP00000508376.1:n.*668A>T
ENST00000683390.1:n.2228A>T
ENST00000683549.1:n.459A>T
ENST00000683936.1:c.*423A>T	ENSP00000507721.1:n.*423A>T
ENST00000683974.1:n.620A>T
ENST00000683996.1:c.127A>T	ENSP00000507060.1:p.Ile43Phe
ENST00000684131.1:n.377A>T
ENST00000684160.1:c.*228A>T	ENSP00000507821.1:n.*228A>T
ENST00000684214.1:c.538A>T	ENSP00000508071.1:p.Ile180Phe
ENST00000414835.7:c.613A>T	ENSP00000411960.3:p.Ile205Phe
ENST00000510025.7:c.538A>T MANE Select	ENSP00000424940.3:p.Ile180Phe
ENST00000643250.1:c.*410A>T	ENSP00000494737.1:n.*410A>T
ENST00000644146.1:c.*116A>T	ENSP00000494808.1:n.*116A>T
ENST00000645099.1:c.97A>T	ENSP00000496091.1:p.Ile33Phe
ENST00000645702.1:c.127A>T	ENSP00000496432.1:p.Ile43Phe
ENST00000645832.1:c.*423A>T	ENSP00000494316.1:n.*423A>T
ENST00000646058.1:c.538A>T	ENSP00000493579.1:p.Ile180Phe
ENST00000646355.1:c.*544A>T	ENSP00000493801.1:n.*544A>T
ENST00000646554.1:c.*516A>T	ENSP00000494542.1:n.*516A>T
ENST00000647335.1:c.*505A>T	ENSP00000495180.1:n.*505A>T
ENST00000647342.1:c.*469A>T	ENSP00000494992.1:n.*469A>T
ENST00000256216.10:c.538A>T	ENSP00000256216.6:p.Ile180Phe
ENST00000414835.6:c.118A>T	ENSP00000411960.2:p.Ile40Phe
ENST00000442060.7:c.538A>T	ENSP00000390208.3:p.Ile180Phe
ENST00000503168.5:n.527A>T
ENST00000504811.5:c.613A>T	ENSP00000420914.1:p.Ile205Phe
ENST00000505181.5:n.241A>T
ENST00000508788.5:n.440A>T
ENST00000509514.5:c.-347A>T	ENSP00000426272.1:n.-347A>T
ENST00000510025.5:c.466A>T	ENSP00000424940.1:p.Ile156Phe
ENST00000512644.1:n.106A>T
ENST00000513628.5:c.127A>T	ENSP00000425993.1:p.Ile43Phe
ENST00000515235.6:n.598A>T
ENST00000515320.5:c.484A>T	ENSP00000424613.1:p.Ile162Phe
NM_000414.3:c.538A>T	NP_000405.1:p.Ile180Phe
NM_001199291.2:c.613A>T	NP_001186220.1:p.Ile205Phe
NM_001199292.1:c.484A>T	NP_001186221.1:p.Ile162Phe
NM_001292027.1:c.466A>T	NP_001278956.1:p.Ile156Phe
NM_001292028.1:c.118A>T	NP_001278957.1:p.Ile40Phe
NM_000414.4:c.538A>T MANE Select	NP_000405.1:p.Ile180Phe
NM_001199291.3:c.613A>T	NP_001186220.1:p.Ile205Phe
NM_001199292.2:c.484A>T	NP_001186221.1:p.Ile162Phe
NM_001292027.2:c.466A>T	NP_001278956.1:p.Ile156Phe
NM_001292028.2:c.118A>T	NP_001278957.1:p.Ile40Phe
NM_001374497.1:c.529A>T	NP_001361426.1:p.Ile177Phe
NM_001374498.1:c.538A>T	NP_001361427.1:p.Ile180Phe
NM_001374499.1:c.211A>T	NP_001361428.1:p.Ile71Phe
NM_001374500.1:c.97A>T	NP_001361429.1:p.Ile33Phe
NM_001374501.1:c.127A>T	NP_001361430.1:p.Ile43Phe
NM_001374502.1:c.127A>T	NP_001361431.1:p.Ile43Phe
NM_001374503.1:c.127A>T	NP_001361432.1:p.Ile43Phe
NR_164653.1:n.617A>T
NR_164654.1:n.805A>T