Canonical Allele Identifier: CA360866231

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814608C>A (hg19) ; chr5:g.119478913C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478913C>A , CM000667.2:g.119478913C>A	GRCh38
NC_000005.9:g.118814608C>A , CM000667.1:g.118814608C>A	GRCh37
NC_000005.8:g.118842507C>A	NCBI36
NG_008182.1:g.31461C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.514C>A	ENSP00000426272.2:p.Leu172Met
ENST00000518349.6:c.113-17630C>A	ENSP00000507185.1:n.113-17630C>A
ENST00000682445.1:c.*395C>A	ENSP00000508061.1:n.*395C>A
ENST00000682531.1:n.615C>A
ENST00000682626.1:c.*20C>A	ENSP00000507857.1:n.*20C>A
ENST00000682996.1:c.514C>A	ENSP00000507792.1:p.Leu172Met
ENST00000683265.1:n.607C>A
ENST00000683371.1:c.*644C>A	ENSP00000508376.1:n.*644C>A
ENST00000683390.1:n.2204C>A
ENST00000683549.1:n.435C>A
ENST00000683936.1:c.*399C>A	ENSP00000507721.1:n.*399C>A
ENST00000683974.1:n.596C>A
ENST00000683996.1:c.103C>A	ENSP00000507060.1:p.Leu35Met
ENST00000684131.1:n.353C>A
ENST00000684160.1:c.*204C>A	ENSP00000507821.1:n.*204C>A
ENST00000684214.1:c.514C>A	ENSP00000508071.1:p.Leu172Met
ENST00000414835.7:c.589C>A	ENSP00000411960.3:p.Leu197Met
ENST00000510025.7:c.514C>A MANE Select	ENSP00000424940.3:p.Leu172Met
ENST00000643250.1:c.*386C>A	ENSP00000494737.1:n.*386C>A
ENST00000644146.1:c.*92C>A	ENSP00000494808.1:n.*92C>A
ENST00000645099.1:c.73C>A	ENSP00000496091.1:p.Leu25Met
ENST00000645702.1:c.103C>A	ENSP00000496432.1:p.Leu35Met
ENST00000645832.1:c.*399C>A	ENSP00000494316.1:n.*399C>A
ENST00000646058.1:c.514C>A	ENSP00000493579.1:p.Leu172Met
ENST00000646355.1:c.*520C>A	ENSP00000493801.1:n.*520C>A
ENST00000646554.1:c.*492C>A	ENSP00000494542.1:n.*492C>A
ENST00000647335.1:c.*481C>A	ENSP00000495180.1:n.*481C>A
ENST00000647342.1:c.*445C>A	ENSP00000494992.1:n.*445C>A
ENST00000256216.10:c.514C>A	ENSP00000256216.6:p.Leu172Met
ENST00000414835.6:c.94C>A	ENSP00000411960.2:p.Leu32Met
ENST00000442060.7:c.514C>A	ENSP00000390208.3:p.Leu172Met
ENST00000503168.5:n.503C>A
ENST00000504811.5:c.589C>A	ENSP00000420914.1:p.Leu197Met
ENST00000505181.5:n.217C>A
ENST00000508788.5:n.416C>A
ENST00000509514.5:c.-371C>A	ENSP00000426272.1:n.-371C>A
ENST00000510025.5:c.442C>A	ENSP00000424940.1:p.Leu148Met
ENST00000512644.1:n.82C>A
ENST00000512841.5:n.562C>A
ENST00000513628.5:c.103C>A	ENSP00000425993.1:p.Leu35Met
ENST00000515235.6:n.574C>A
ENST00000515320.5:c.460C>A	ENSP00000424613.1:p.Leu154Met
NM_000414.3:c.514C>A	NP_000405.1:p.Leu172Met
NM_001199291.2:c.589C>A	NP_001186220.1:p.Leu197Met
NM_001199292.1:c.460C>A	NP_001186221.1:p.Leu154Met
NM_001292027.1:c.442C>A	NP_001278956.1:p.Leu148Met
NM_001292028.1:c.94C>A	NP_001278957.1:p.Leu32Met
NM_000414.4:c.514C>A MANE Select	NP_000405.1:p.Leu172Met
NM_001199291.3:c.589C>A	NP_001186220.1:p.Leu197Met
NM_001199292.2:c.460C>A	NP_001186221.1:p.Leu154Met
NM_001292027.2:c.442C>A	NP_001278956.1:p.Leu148Met
NM_001292028.2:c.94C>A	NP_001278957.1:p.Leu32Met
NM_001374497.1:c.505C>A	NP_001361426.1:p.Leu169Met
NM_001374498.1:c.514C>A	NP_001361427.1:p.Leu172Met
NM_001374499.1:c.187C>A	NP_001361428.1:p.Leu63Met
NM_001374500.1:c.73C>A	NP_001361429.1:p.Leu25Met
NM_001374501.1:c.103C>A	NP_001361430.1:p.Leu35Met
NM_001374502.1:c.103C>A	NP_001361431.1:p.Leu35Met
NM_001374503.1:c.103C>A	NP_001361432.1:p.Leu35Met
NR_164653.1:n.593C>A
NR_164654.1:n.781C>A