Canonical Allele Identifier: CA360866216

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814600T>G (hg19) ; chr5:g.119478905T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478905T>G , CM000667.2:g.119478905T>G	GRCh38
NC_000005.9:g.118814600T>G , CM000667.1:g.118814600T>G	GRCh37
NC_000005.8:g.118842499T>G	NCBI36
NG_008182.1:g.31453T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.506T>G	ENSP00000426272.2:p.Leu169Trp
ENST00000518349.6:c.113-17638T>G	ENSP00000507185.1:n.113-17638T>G
ENST00000682445.1:c.*387T>G	ENSP00000508061.1:n.*387T>G
ENST00000682531.1:n.607T>G
ENST00000682626.1:c.*12T>G	ENSP00000507857.1:n.*12T>G
ENST00000682996.1:c.506T>G	ENSP00000507792.1:p.Leu169Trp
ENST00000683265.1:n.599T>G
ENST00000683371.1:c.*636T>G	ENSP00000508376.1:n.*636T>G
ENST00000683390.1:n.2196T>G
ENST00000683549.1:n.427T>G
ENST00000683936.1:c.*391T>G	ENSP00000507721.1:n.*391T>G
ENST00000683974.1:n.588T>G
ENST00000683996.1:c.95T>G	ENSP00000507060.1:p.Leu32Trp
ENST00000684131.1:n.345T>G
ENST00000684160.1:c.*196T>G	ENSP00000507821.1:n.*196T>G
ENST00000684214.1:c.506T>G	ENSP00000508071.1:p.Leu169Trp
ENST00000414835.7:c.581T>G	ENSP00000411960.3:p.Leu194Trp
ENST00000510025.7:c.506T>G MANE Select	ENSP00000424940.3:p.Leu169Trp
ENST00000643250.1:c.*378T>G	ENSP00000494737.1:n.*378T>G
ENST00000644146.1:c.*84T>G	ENSP00000494808.1:n.*84T>G
ENST00000645099.1:c.65T>G	ENSP00000496091.1:p.Leu22Trp
ENST00000645702.1:c.95T>G	ENSP00000496432.1:p.Leu32Trp
ENST00000645832.1:c.*391T>G	ENSP00000494316.1:n.*391T>G
ENST00000646058.1:c.506T>G	ENSP00000493579.1:p.Leu169Trp
ENST00000646355.1:c.*512T>G	ENSP00000493801.1:n.*512T>G
ENST00000646554.1:c.*484T>G	ENSP00000494542.1:n.*484T>G
ENST00000646590.1:c.497T>G	ENSP00000494892.1:p.Leu166Trp
ENST00000647335.1:c.*473T>G	ENSP00000495180.1:n.*473T>G
ENST00000647342.1:c.*437T>G	ENSP00000494992.1:n.*437T>G
ENST00000256216.10:c.506T>G	ENSP00000256216.6:p.Leu169Trp
ENST00000414835.6:c.86T>G	ENSP00000411960.2:p.Leu29Trp
ENST00000442060.7:c.506T>G	ENSP00000390208.3:p.Leu169Trp
ENST00000503168.5:n.495T>G
ENST00000504811.5:c.581T>G	ENSP00000420914.1:p.Leu194Trp
ENST00000505181.5:n.209T>G
ENST00000508788.5:n.408T>G
ENST00000509514.5:c.-379T>G	ENSP00000426272.1:n.-379T>G
ENST00000510025.5:c.434T>G	ENSP00000424940.1:p.Leu145Trp
ENST00000512644.1:n.74T>G
ENST00000512841.5:n.554T>G
ENST00000513628.5:c.95T>G	ENSP00000425993.1:p.Leu32Trp
ENST00000515235.6:n.566T>G
ENST00000515320.5:c.452T>G	ENSP00000424613.1:p.Leu151Trp
NM_000414.3:c.506T>G	NP_000405.1:p.Leu169Trp
NM_001199291.2:c.581T>G	NP_001186220.1:p.Leu194Trp
NM_001199292.1:c.452T>G	NP_001186221.1:p.Leu151Trp
NM_001292027.1:c.434T>G	NP_001278956.1:p.Leu145Trp
NM_001292028.1:c.86T>G	NP_001278957.1:p.Leu29Trp
NM_000414.4:c.506T>G MANE Select	NP_000405.1:p.Leu169Trp
NM_001199291.3:c.581T>G	NP_001186220.1:p.Leu194Trp
NM_001199292.2:c.452T>G	NP_001186221.1:p.Leu151Trp
NM_001292027.2:c.434T>G	NP_001278956.1:p.Leu145Trp
NM_001292028.2:c.86T>G	NP_001278957.1:p.Leu29Trp
NM_001374497.1:c.497T>G	NP_001361426.1:p.Leu166Trp
NM_001374498.1:c.506T>G	NP_001361427.1:p.Leu169Trp
NM_001374499.1:c.179T>G	NP_001361428.1:p.Leu60Trp
NM_001374500.1:c.65T>G	NP_001361429.1:p.Leu22Trp
NM_001374501.1:c.95T>G	NP_001361430.1:p.Leu32Trp
NM_001374502.1:c.95T>G	NP_001361431.1:p.Leu32Trp
NM_001374503.1:c.95T>G	NP_001361432.1:p.Leu32Trp
NR_164653.1:n.585T>G
NR_164654.1:n.773T>G