Canonical Allele Identifier: CA360866445

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814711C>G (hg19) ; chr5:g.119479016C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479016C>G , CM000667.2:g.119479016C>G	GRCh38
NC_000005.9:g.118814711C>G , CM000667.1:g.118814711C>G	GRCh37
NC_000005.8:g.118842610C>G	NCBI36
NG_008182.1:g.31564C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.617C>G	ENSP00000426272.2:p.Pro206Arg
ENST00000518349.6:c.113-17527C>G	ENSP00000507185.1:n.113-17527C>G
ENST00000682445.1:c.*498C>G	ENSP00000508061.1:n.*498C>G
ENST00000682531.1:n.718C>G
ENST00000682626.1:c.*123C>G	ENSP00000507857.1:n.*123C>G
ENST00000682996.1:c.617C>G	ENSP00000507792.1:p.Pro206Arg
ENST00000683265.1:n.710C>G
ENST00000683371.1:c.*747C>G	ENSP00000508376.1:n.*747C>G
ENST00000683390.1:n.2307C>G
ENST00000683549.1:n.538C>G
ENST00000683936.1:c.*502C>G	ENSP00000507721.1:n.*502C>G
ENST00000683974.1:n.699C>G
ENST00000683996.1:c.206C>G	ENSP00000507060.1:p.Pro69Arg
ENST00000684131.1:n.456C>G
ENST00000684160.1:c.*307C>G	ENSP00000507821.1:n.*307C>G
ENST00000684214.1:c.617C>G	ENSP00000508071.1:p.Pro206Arg
ENST00000414835.7:c.692C>G	ENSP00000411960.3:p.Pro231Arg
ENST00000510025.7:c.617C>G MANE Select	ENSP00000424940.3:p.Pro206Arg
ENST00000643250.1:c.*489C>G	ENSP00000494737.1:n.*489C>G
ENST00000644146.1:c.*195C>G	ENSP00000494808.1:n.*195C>G
ENST00000645099.1:c.176C>G	ENSP00000496091.1:p.Pro59Arg
ENST00000645702.1:c.206C>G	ENSP00000496432.1:p.Pro69Arg
ENST00000645832.1:c.*502C>G	ENSP00000494316.1:n.*502C>G
ENST00000646058.1:c.617C>G	ENSP00000493579.1:p.Pro206Arg
ENST00000646355.1:c.*623C>G	ENSP00000493801.1:n.*623C>G
ENST00000646554.1:c.*595C>G	ENSP00000494542.1:n.*595C>G
ENST00000647335.1:c.*584C>G	ENSP00000495180.1:n.*584C>G
ENST00000647342.1:c.*548C>G	ENSP00000494992.1:n.*548C>G
ENST00000256216.10:c.617C>G	ENSP00000256216.6:p.Pro206Arg
ENST00000414835.6:c.197C>G	ENSP00000411960.2:p.Pro66Arg
ENST00000442060.7:c.617C>G	ENSP00000390208.3:p.Pro206Arg
ENST00000504811.5:c.692C>G	ENSP00000420914.1:p.Pro231Arg
ENST00000505181.5:n.320C>G
ENST00000509514.5:c.-268C>G	ENSP00000426272.1:n.-268C>G
ENST00000510025.5:c.545C>G	ENSP00000424940.1:p.Pro182Arg
ENST00000512644.1:n.185C>G
ENST00000513628.5:c.206C>G	ENSP00000425993.1:p.Pro69Arg
ENST00000515235.6:n.677C>G
ENST00000515320.5:c.563C>G	ENSP00000424613.1:p.Pro188Arg
NM_000414.3:c.617C>G	NP_000405.1:p.Pro206Arg
NM_001199291.2:c.692C>G	NP_001186220.1:p.Pro231Arg
NM_001199292.1:c.563C>G	NP_001186221.1:p.Pro188Arg
NM_001292027.1:c.545C>G	NP_001278956.1:p.Pro182Arg
NM_001292028.1:c.197C>G	NP_001278957.1:p.Pro66Arg
NM_000414.4:c.617C>G MANE Select	NP_000405.1:p.Pro206Arg
NM_001199291.3:c.692C>G	NP_001186220.1:p.Pro231Arg
NM_001199292.2:c.563C>G	NP_001186221.1:p.Pro188Arg
NM_001292027.2:c.545C>G	NP_001278956.1:p.Pro182Arg
NM_001292028.2:c.197C>G	NP_001278957.1:p.Pro66Arg
NM_001374497.1:c.608C>G	NP_001361426.1:p.Pro203Arg
NM_001374498.1:c.617C>G	NP_001361427.1:p.Pro206Arg
NM_001374499.1:c.290C>G	NP_001361428.1:p.Pro97Arg
NM_001374500.1:c.176C>G	NP_001361429.1:p.Pro59Arg
NM_001374501.1:c.206C>G	NP_001361430.1:p.Pro69Arg
NM_001374502.1:c.206C>G	NP_001361431.1:p.Pro69Arg
NM_001374503.1:c.206C>G	NP_001361432.1:p.Pro69Arg
NR_164653.1:n.696C>G
NR_164654.1:n.884C>G