Canonical Allele Identifier: CA360866117

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814558T>C (hg19) ; chr5:g.119478863T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478863T>C , CM000667.2:g.119478863T>C	GRCh38
NC_000005.9:g.118814558T>C , CM000667.1:g.118814558T>C	GRCh37
NC_000005.8:g.118842457T>C	NCBI36
NG_008182.1:g.31411T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.464T>C	ENSP00000426272.2:p.Ile155Thr
ENST00000518349.6:c.113-17680T>C	ENSP00000507185.1:n.113-17680T>C
ENST00000682445.1:c.*345T>C	ENSP00000508061.1:n.*345T>C
ENST00000682531.1:n.565T>C
ENST00000682626.1:c.492T>C	ENSP00000507857.1:p.Asn164=
ENST00000682996.1:c.464T>C	ENSP00000507792.1:p.Ile155Thr
ENST00000683265.1:n.557T>C
ENST00000683371.1:c.*594T>C	ENSP00000508376.1:n.*594T>C
ENST00000683390.1:n.2154T>C
ENST00000683549.1:n.385T>C
ENST00000683936.1:c.*349T>C	ENSP00000507721.1:n.*349T>C
ENST00000683974.1:n.546T>C
ENST00000683996.1:c.53T>C	ENSP00000507060.1:p.Ile18Thr
ENST00000684131.1:n.303T>C
ENST00000684160.1:c.*154T>C	ENSP00000507821.1:n.*154T>C
ENST00000684214.1:c.464T>C	ENSP00000508071.1:p.Ile155Thr
ENST00000414835.7:c.539T>C	ENSP00000411960.3:p.Ile180Thr
ENST00000510025.7:c.464T>C MANE Select	ENSP00000424940.3:p.Ile155Thr
ENST00000643250.1:c.*336T>C	ENSP00000494737.1:n.*336T>C
ENST00000644146.1:c.*42T>C	ENSP00000494808.1:n.*42T>C
ENST00000645099.1:c.23T>C	ENSP00000496091.1:p.Ile8Thr
ENST00000645702.1:c.53T>C	ENSP00000496432.1:p.Ile18Thr
ENST00000645832.1:c.*349T>C	ENSP00000494316.1:n.*349T>C
ENST00000646058.1:c.464T>C	ENSP00000493579.1:p.Ile155Thr
ENST00000646355.1:c.*470T>C	ENSP00000493801.1:n.*470T>C
ENST00000646554.1:c.*442T>C	ENSP00000494542.1:n.*442T>C
ENST00000646590.1:c.455T>C	ENSP00000494892.1:p.Ile152Thr
ENST00000647335.1:c.*431T>C	ENSP00000495180.1:n.*431T>C
ENST00000647342.1:c.*395T>C	ENSP00000494992.1:n.*395T>C
ENST00000256216.10:c.464T>C	ENSP00000256216.6:p.Ile155Thr
ENST00000414835.6:c.44T>C	ENSP00000411960.2:p.Ile15Thr
ENST00000442060.7:c.464T>C	ENSP00000390208.3:p.Ile155Thr
ENST00000503168.5:n.453T>C
ENST00000504811.5:c.539T>C	ENSP00000420914.1:p.Ile180Thr
ENST00000505181.5:n.167T>C
ENST00000508788.5:n.366T>C
ENST00000509514.5:c.-421T>C	ENSP00000426272.1:n.-421T>C
ENST00000510025.5:c.392T>C	ENSP00000424940.1:p.Ile131Thr
ENST00000512644.1:n.32T>C
ENST00000512841.5:n.512T>C
ENST00000513628.5:c.53T>C	ENSP00000425993.1:p.Ile18Thr
ENST00000515235.6:n.524T>C
ENST00000515320.5:c.410T>C	ENSP00000424613.1:p.Ile137Thr
NM_000414.3:c.464T>C	NP_000405.1:p.Ile155Thr
NM_001199291.2:c.539T>C	NP_001186220.1:p.Ile180Thr
NM_001199292.1:c.410T>C	NP_001186221.1:p.Ile137Thr
NM_001292027.1:c.392T>C	NP_001278956.1:p.Ile131Thr
NM_001292028.1:c.44T>C	NP_001278957.1:p.Ile15Thr
NM_000414.4:c.464T>C MANE Select	NP_000405.1:p.Ile155Thr
NM_001199291.3:c.539T>C	NP_001186220.1:p.Ile180Thr
NM_001199292.2:c.410T>C	NP_001186221.1:p.Ile137Thr
NM_001292027.2:c.392T>C	NP_001278956.1:p.Ile131Thr
NM_001292028.2:c.44T>C	NP_001278957.1:p.Ile15Thr
NM_001374497.1:c.455T>C	NP_001361426.1:p.Ile152Thr
NM_001374498.1:c.464T>C	NP_001361427.1:p.Ile155Thr
NM_001374499.1:c.137T>C	NP_001361428.1:p.Ile46Thr
NM_001374500.1:c.23T>C	NP_001361429.1:p.Ile8Thr
NM_001374501.1:c.53T>C	NP_001361430.1:p.Ile18Thr
NM_001374502.1:c.53T>C	NP_001361431.1:p.Ile18Thr
NM_001374503.1:c.53T>C	NP_001361432.1:p.Ile18Thr
NR_164653.1:n.543T>C
NR_164654.1:n.731T>C