Canonical Allele Identifier: CA360866097

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814548G>T (hg19) ; chr5:g.119478853G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478853G>T , CM000667.2:g.119478853G>T	GRCh38
NC_000005.9:g.118814548G>T , CM000667.1:g.118814548G>T	GRCh37
NC_000005.8:g.118842447G>T	NCBI36
NG_008182.1:g.31401G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.454G>T	ENSP00000426272.2:p.Ala152Ser
ENST00000518349.6:c.113-17690G>T	ENSP00000507185.1:n.113-17690G>T
ENST00000682445.1:c.*335G>T	ENSP00000508061.1:n.*335G>T
ENST00000682531.1:n.555G>T
ENST00000682626.1:c.482G>T	ENSP00000507857.1:p.Ser161Ile
ENST00000682996.1:c.454G>T	ENSP00000507792.1:p.Ala152Ser
ENST00000683265.1:n.547G>T
ENST00000683371.1:c.*584G>T	ENSP00000508376.1:n.*584G>T
ENST00000683390.1:n.2144G>T
ENST00000683549.1:n.375G>T
ENST00000683936.1:c.*339G>T	ENSP00000507721.1:n.*339G>T
ENST00000683974.1:n.536G>T
ENST00000683996.1:c.43G>T	ENSP00000507060.1:p.Ala15Ser
ENST00000684131.1:n.293G>T
ENST00000684160.1:c.*144G>T	ENSP00000507821.1:n.*144G>T
ENST00000684214.1:c.454G>T	ENSP00000508071.1:p.Ala152Ser
ENST00000414835.7:c.529G>T	ENSP00000411960.3:p.Ala177Ser
ENST00000510025.7:c.454G>T MANE Select	ENSP00000424940.3:p.Ala152Ser
ENST00000643250.1:c.*326G>T	ENSP00000494737.1:n.*326G>T
ENST00000644146.1:c.*32G>T	ENSP00000494808.1:n.*32G>T
ENST00000645099.1:c.13G>T	ENSP00000496091.1:p.Ala5Ser
ENST00000645702.1:c.43G>T	ENSP00000496432.1:p.Ala15Ser
ENST00000645832.1:c.*339G>T	ENSP00000494316.1:n.*339G>T
ENST00000646058.1:c.454G>T	ENSP00000493579.1:p.Ala152Ser
ENST00000646355.1:c.*460G>T	ENSP00000493801.1:n.*460G>T
ENST00000646554.1:c.*432G>T	ENSP00000494542.1:n.*432G>T
ENST00000646590.1:c.445G>T	ENSP00000494892.1:p.Ala149Ser
ENST00000647335.1:c.*421G>T	ENSP00000495180.1:n.*421G>T
ENST00000647342.1:c.*385G>T	ENSP00000494992.1:n.*385G>T
ENST00000256216.10:c.454G>T	ENSP00000256216.6:p.Ala152Ser
ENST00000414835.6:c.34G>T	ENSP00000411960.2:p.Ala12Ser
ENST00000442060.7:c.454G>T	ENSP00000390208.3:p.Ala152Ser
ENST00000503168.5:n.443G>T
ENST00000504811.5:c.529G>T	ENSP00000420914.1:p.Ala177Ser
ENST00000505181.5:n.157G>T
ENST00000508788.5:n.356G>T
ENST00000509514.5:c.-431G>T	ENSP00000426272.1:n.-431G>T
ENST00000510025.5:c.382G>T	ENSP00000424940.1:p.Ala128Ser
ENST00000512644.1:n.22G>T
ENST00000512841.5:n.502G>T
ENST00000513628.5:c.43G>T	ENSP00000425993.1:p.Ala15Ser
ENST00000515235.6:n.514G>T
ENST00000515320.5:c.400G>T	ENSP00000424613.1:p.Ala134Ser
NM_000414.3:c.454G>T	NP_000405.1:p.Ala152Ser
NM_001199291.2:c.529G>T	NP_001186220.1:p.Ala177Ser
NM_001199292.1:c.400G>T	NP_001186221.1:p.Ala134Ser
NM_001292027.1:c.382G>T	NP_001278956.1:p.Ala128Ser
NM_001292028.1:c.34G>T	NP_001278957.1:p.Ala12Ser
NM_000414.4:c.454G>T MANE Select	NP_000405.1:p.Ala152Ser
NM_001199291.3:c.529G>T	NP_001186220.1:p.Ala177Ser
NM_001199292.2:c.400G>T	NP_001186221.1:p.Ala134Ser
NM_001292027.2:c.382G>T	NP_001278956.1:p.Ala128Ser
NM_001292028.2:c.34G>T	NP_001278957.1:p.Ala12Ser
NM_001374497.1:c.445G>T	NP_001361426.1:p.Ala149Ser
NM_001374498.1:c.454G>T	NP_001361427.1:p.Ala152Ser
NM_001374499.1:c.127G>T	NP_001361428.1:p.Ala43Ser
NM_001374500.1:c.13G>T	NP_001361429.1:p.Ala5Ser
NM_001374501.1:c.43G>T	NP_001361430.1:p.Ala15Ser
NM_001374502.1:c.43G>T	NP_001361431.1:p.Ala15Ser
NM_001374503.1:c.43G>T	NP_001361432.1:p.Ala15Ser
NR_164653.1:n.533G>T
NR_164654.1:n.721G>T