Canonical Allele Identifier: CA360866077

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814539A>C (hg19) ; chr5:g.119478844A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478844A>C , CM000667.2:g.119478844A>C	GRCh38
NC_000005.9:g.118814539A>C , CM000667.1:g.118814539A>C	GRCh37
NC_000005.8:g.118842438A>C	NCBI36
NG_008182.1:g.31392A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.445A>C	ENSP00000426272.2:p.Thr149Pro
ENST00000518349.6:c.113-17699A>C	ENSP00000507185.1:n.113-17699A>C
ENST00000682445.1:c.*326A>C	ENSP00000508061.1:n.*326A>C
ENST00000682531.1:n.546A>C
ENST00000682626.1:c.473A>C	ENSP00000507857.1:p.Asp158Ala
ENST00000682996.1:c.445A>C	ENSP00000507792.1:p.Thr149Pro
ENST00000683265.1:n.538A>C
ENST00000683371.1:c.*575A>C	ENSP00000508376.1:n.*575A>C
ENST00000683390.1:n.2135A>C
ENST00000683549.1:n.366A>C
ENST00000683936.1:c.*330A>C	ENSP00000507721.1:n.*330A>C
ENST00000683974.1:n.527A>C
ENST00000683996.1:c.34A>C	ENSP00000507060.1:p.Thr12Pro
ENST00000684131.1:n.284A>C
ENST00000684160.1:c.*135A>C	ENSP00000507821.1:n.*135A>C
ENST00000684214.1:c.445A>C	ENSP00000508071.1:p.Thr149Pro
ENST00000414835.7:c.520A>C	ENSP00000411960.3:p.Thr174Pro
ENST00000510025.7:c.445A>C MANE Select	ENSP00000424940.3:p.Thr149Pro
ENST00000643250.1:c.*317A>C	ENSP00000494737.1:n.*317A>C
ENST00000644146.1:c.*23A>C	ENSP00000494808.1:n.*23A>C
ENST00000645099.1:c.4A>C	ENSP00000496091.1:p.Thr2Pro
ENST00000645702.1:c.34A>C	ENSP00000496432.1:p.Thr12Pro
ENST00000645832.1:c.*330A>C	ENSP00000494316.1:n.*330A>C
ENST00000646058.1:c.445A>C	ENSP00000493579.1:p.Thr149Pro
ENST00000646355.1:c.*451A>C	ENSP00000493801.1:n.*451A>C
ENST00000646554.1:c.*423A>C	ENSP00000494542.1:n.*423A>C
ENST00000646590.1:c.436A>C	ENSP00000494892.1:p.Thr146Pro
ENST00000647335.1:c.*412A>C	ENSP00000495180.1:n.*412A>C
ENST00000647342.1:c.*376A>C	ENSP00000494992.1:n.*376A>C
ENST00000256216.10:c.445A>C	ENSP00000256216.6:p.Thr149Pro
ENST00000414835.6:c.25A>C	ENSP00000411960.2:p.Thr9Pro
ENST00000442060.7:c.445A>C	ENSP00000390208.3:p.Thr149Pro
ENST00000503168.5:n.434A>C
ENST00000504811.5:c.520A>C	ENSP00000420914.1:p.Thr174Pro
ENST00000505181.5:n.148A>C
ENST00000508788.5:n.347A>C
ENST00000509514.5:c.-440A>C	ENSP00000426272.1:n.-440A>C
ENST00000510025.5:c.373A>C	ENSP00000424940.1:p.Thr125Pro
ENST00000512644.1:n.13A>C
ENST00000512841.5:n.493A>C
ENST00000513628.5:c.34A>C	ENSP00000425993.1:p.Thr12Pro
ENST00000515235.6:n.505A>C
ENST00000515320.5:c.391A>C	ENSP00000424613.1:p.Thr131Pro
NM_000414.3:c.445A>C	NP_000405.1:p.Thr149Pro
NM_001199291.2:c.520A>C	NP_001186220.1:p.Thr174Pro
NM_001199292.1:c.391A>C	NP_001186221.1:p.Thr131Pro
NM_001292027.1:c.373A>C	NP_001278956.1:p.Thr125Pro
NM_001292028.1:c.25A>C	NP_001278957.1:p.Thr9Pro
NM_000414.4:c.445A>C MANE Select	NP_000405.1:p.Thr149Pro
NM_001199291.3:c.520A>C	NP_001186220.1:p.Thr174Pro
NM_001199292.2:c.391A>C	NP_001186221.1:p.Thr131Pro
NM_001292027.2:c.373A>C	NP_001278956.1:p.Thr125Pro
NM_001292028.2:c.25A>C	NP_001278957.1:p.Thr9Pro
NM_001374497.1:c.436A>C	NP_001361426.1:p.Thr146Pro
NM_001374498.1:c.445A>C	NP_001361427.1:p.Thr149Pro
NM_001374499.1:c.118A>C	NP_001361428.1:p.Thr40Pro
NM_001374500.1:c.4A>C	NP_001361429.1:p.Thr2Pro
NM_001374501.1:c.34A>C	NP_001361430.1:p.Thr12Pro
NM_001374502.1:c.34A>C	NP_001361431.1:p.Thr12Pro
NM_001374503.1:c.34A>C	NP_001361432.1:p.Thr12Pro
NR_164653.1:n.524A>C
NR_164654.1:n.712A>C