Canonical Allele Identifier: CA446040841

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118811544A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119475849A>C , CM000667.2:g.119475849A>C	GRCh38
NC_000005.9:g.118811544A>C , CM000667.1:g.118811544A>C	GRCh37
NC_000005.8:g.118839443A>C	NCBI36
NG_008182.1:g.28397A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.328A>C	ENSP00000426272.2:p.Arg110=
ENST00000518349.6:c.112+19481A>C	ENSP00000507185.1:n.112+19481A>C
ENST00000682445.1:c.*209A>C	ENSP00000508061.1:n.*209A>C
ENST00000682531.1:n.429A>C
ENST00000682626.1:c.377+122A>C	ENSP00000507857.1:n.377+122A>C
ENST00000682996.1:c.328A>C	ENSP00000507792.1:p.Arg110=
ENST00000683265.1:n.421A>C
ENST00000683371.1:c.*458A>C	ENSP00000508376.1:n.*458A>C
ENST00000683390.1:n.472A>C
ENST00000683936.1:c.*213A>C	ENSP00000507721.1:n.*213A>C
ENST00000683974.1:n.410A>C
ENST00000684160.1:c.403A>C	ENSP00000507821.1:p.Arg135=
ENST00000684214.1:c.328A>C	ENSP00000508071.1:p.Arg110=
ENST00000414835.7:c.403A>C	ENSP00000411960.3:p.Arg135=
ENST00000510025.7:c.328A>C MANE Select	ENSP00000424940.3:p.Arg110=
ENST00000643250.1:c.*209A>C	ENSP00000494737.1:n.*209A>C
ENST00000644146.1:c.328A>C	ENSP00000494808.1:p.Arg110=
ENST00000645832.1:c.*213A>C	ENSP00000494316.1:n.*213A>C
ENST00000646058.1:c.328A>C	ENSP00000493579.1:p.Arg110=
ENST00000646355.1:c.*334A>C	ENSP00000493801.1:n.*334A>C
ENST00000646554.1:c.*209A>C	ENSP00000494542.1:n.*209A>C
ENST00000646590.1:c.328A>C	ENSP00000494892.1:p.Arg110=
ENST00000647335.1:c.*295A>C	ENSP00000495180.1:n.*295A>C
ENST00000647342.1:c.*209A>C	ENSP00000494992.1:n.*209A>C
ENST00000256216.10:c.328A>C	ENSP00000256216.6:p.Arg110=
ENST00000414835.6:c.-84A>C	ENSP00000411960.2:n.-84A>C
ENST00000442060.7:c.328A>C	ENSP00000390208.3:p.Arg110=
ENST00000503168.5:n.317A>C
ENST00000504811.5:c.403A>C	ENSP00000420914.1:p.Arg135=
ENST00000507695.1:n.300A>C
ENST00000510025.5:c.256A>C	ENSP00000424940.1:p.Arg86=
ENST00000511186.5:n.459A>C
ENST00000512841.5:n.376A>C
ENST00000515235.6:n.388A>C
ENST00000515320.5:c.274A>C	ENSP00000424613.1:p.Arg92=
NM_000414.3:c.328A>C	NP_000405.1:p.Arg110=
NM_001199291.2:c.403A>C	NP_001186220.1:p.Arg135=
NM_001199292.1:c.274A>C	NP_001186221.1:p.Arg92=
NM_001292027.1:c.256A>C	NP_001278956.1:p.Arg86=
NM_001292028.1:c.-84A>C	NP_001278957.1:n.-84A>C
NM_000414.4:c.328A>C MANE Select	NP_000405.1:p.Arg110=
NM_001199291.3:c.403A>C	NP_001186220.1:p.Arg135=
NM_001199292.2:c.274A>C	NP_001186221.1:p.Arg92=
NM_001292027.2:c.256A>C	NP_001278956.1:p.Arg86=
NM_001292028.2:c.-84A>C	NP_001278957.1:n.-84A>C
NM_001374497.1:c.328A>C	NP_001361426.1:p.Arg110=
NM_001374498.1:c.328A>C	NP_001361427.1:p.Arg110=
NM_001374499.1:c.22+122A>C	NP_001361428.1:n.22+122A>C
NM_001374500.1:c.-211A>C	NP_001361429.1:n.-211A>C
NM_001374501.1:c.-84A>C	NP_001361430.1:n.-84A>C
NM_001374502.1:c.-84A>C	NP_001361431.1:n.-84A>C
NM_001374503.1:c.-84A>C	NP_001361432.1:n.-84A>C
NR_164653.1:n.407A>C
NR_164654.1:n.595A>C