Canonical Allele Identifier: CA360866102

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814551T>C (hg19) ; chr5:g.119478856T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478856T>C , CM000667.2:g.119478856T>C	GRCh38
NC_000005.9:g.118814551T>C , CM000667.1:g.118814551T>C	GRCh37
NC_000005.8:g.118842450T>C	NCBI36
NG_008182.1:g.31404T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.457T>C	ENSP00000426272.2:p.Ser153Pro
ENST00000518349.6:c.113-17687T>C	ENSP00000507185.1:n.113-17687T>C
ENST00000682445.1:c.*338T>C	ENSP00000508061.1:n.*338T>C
ENST00000682531.1:n.558T>C
ENST00000682626.1:c.485T>C	ENSP00000507857.1:p.Phe162Ser
ENST00000682996.1:c.457T>C	ENSP00000507792.1:p.Ser153Pro
ENST00000683265.1:n.550T>C
ENST00000683371.1:c.*587T>C	ENSP00000508376.1:n.*587T>C
ENST00000683390.1:n.2147T>C
ENST00000683549.1:n.378T>C
ENST00000683936.1:c.*342T>C	ENSP00000507721.1:n.*342T>C
ENST00000683974.1:n.539T>C
ENST00000683996.1:c.46T>C	ENSP00000507060.1:p.Ser16Pro
ENST00000684131.1:n.296T>C
ENST00000684160.1:c.*147T>C	ENSP00000507821.1:n.*147T>C
ENST00000684214.1:c.457T>C	ENSP00000508071.1:p.Ser153Pro
ENST00000414835.7:c.532T>C	ENSP00000411960.3:p.Ser178Pro
ENST00000510025.7:c.457T>C MANE Select	ENSP00000424940.3:p.Ser153Pro
ENST00000643250.1:c.*329T>C	ENSP00000494737.1:n.*329T>C
ENST00000644146.1:c.*35T>C	ENSP00000494808.1:n.*35T>C
ENST00000645099.1:c.16T>C	ENSP00000496091.1:p.Ser6Pro
ENST00000645702.1:c.46T>C	ENSP00000496432.1:p.Ser16Pro
ENST00000645832.1:c.*342T>C	ENSP00000494316.1:n.*342T>C
ENST00000646058.1:c.457T>C	ENSP00000493579.1:p.Ser153Pro
ENST00000646355.1:c.*463T>C	ENSP00000493801.1:n.*463T>C
ENST00000646554.1:c.*435T>C	ENSP00000494542.1:n.*435T>C
ENST00000646590.1:c.448T>C	ENSP00000494892.1:p.Ser150Pro
ENST00000647335.1:c.*424T>C	ENSP00000495180.1:n.*424T>C
ENST00000647342.1:c.*388T>C	ENSP00000494992.1:n.*388T>C
ENST00000256216.10:c.457T>C	ENSP00000256216.6:p.Ser153Pro
ENST00000414835.6:c.37T>C	ENSP00000411960.2:p.Ser13Pro
ENST00000442060.7:c.457T>C	ENSP00000390208.3:p.Ser153Pro
ENST00000503168.5:n.446T>C
ENST00000504811.5:c.532T>C	ENSP00000420914.1:p.Ser178Pro
ENST00000505181.5:n.160T>C
ENST00000508788.5:n.359T>C
ENST00000509514.5:c.-428T>C	ENSP00000426272.1:n.-428T>C
ENST00000510025.5:c.385T>C	ENSP00000424940.1:p.Ser129Pro
ENST00000512644.1:n.25T>C
ENST00000512841.5:n.505T>C
ENST00000513628.5:c.46T>C	ENSP00000425993.1:p.Ser16Pro
ENST00000515235.6:n.517T>C
ENST00000515320.5:c.403T>C	ENSP00000424613.1:p.Ser135Pro
NM_000414.3:c.457T>C	NP_000405.1:p.Ser153Pro
NM_001199291.2:c.532T>C	NP_001186220.1:p.Ser178Pro
NM_001199292.1:c.403T>C	NP_001186221.1:p.Ser135Pro
NM_001292027.1:c.385T>C	NP_001278956.1:p.Ser129Pro
NM_001292028.1:c.37T>C	NP_001278957.1:p.Ser13Pro
NM_000414.4:c.457T>C MANE Select	NP_000405.1:p.Ser153Pro
NM_001199291.3:c.532T>C	NP_001186220.1:p.Ser178Pro
NM_001199292.2:c.403T>C	NP_001186221.1:p.Ser135Pro
NM_001292027.2:c.385T>C	NP_001278956.1:p.Ser129Pro
NM_001292028.2:c.37T>C	NP_001278957.1:p.Ser13Pro
NM_001374497.1:c.448T>C	NP_001361426.1:p.Ser150Pro
NM_001374498.1:c.457T>C	NP_001361427.1:p.Ser153Pro
NM_001374499.1:c.130T>C	NP_001361428.1:p.Ser44Pro
NM_001374500.1:c.16T>C	NP_001361429.1:p.Ser6Pro
NM_001374501.1:c.46T>C	NP_001361430.1:p.Ser16Pro
NM_001374502.1:c.46T>C	NP_001361431.1:p.Ser16Pro
NM_001374503.1:c.46T>C	NP_001361432.1:p.Ser16Pro
NR_164653.1:n.536T>C
NR_164654.1:n.724T>C