Canonical Allele Identifier: CA360866265

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814626C>A (hg19) ; chr5:g.119478931C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478931C>A , CM000667.2:g.119478931C>A	GRCh38
NC_000005.9:g.118814626C>A , CM000667.1:g.118814626C>A	GRCh37
NC_000005.8:g.118842525C>A	NCBI36
NG_008182.1:g.31479C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.532C>A	ENSP00000426272.2:p.Leu178Ile
ENST00000518349.6:c.113-17612C>A	ENSP00000507185.1:n.113-17612C>A
ENST00000682445.1:c.*413C>A	ENSP00000508061.1:n.*413C>A
ENST00000682531.1:n.633C>A
ENST00000682626.1:c.*38C>A	ENSP00000507857.1:n.*38C>A
ENST00000682996.1:c.532C>A	ENSP00000507792.1:p.Leu178Ile
ENST00000683265.1:n.625C>A
ENST00000683371.1:c.*662C>A	ENSP00000508376.1:n.*662C>A
ENST00000683390.1:n.2222C>A
ENST00000683549.1:n.453C>A
ENST00000683936.1:c.*417C>A	ENSP00000507721.1:n.*417C>A
ENST00000683974.1:n.614C>A
ENST00000683996.1:c.121C>A	ENSP00000507060.1:p.Leu41Ile
ENST00000684131.1:n.371C>A
ENST00000684160.1:c.*222C>A	ENSP00000507821.1:n.*222C>A
ENST00000684214.1:c.532C>A	ENSP00000508071.1:p.Leu178Ile
ENST00000414835.7:c.607C>A	ENSP00000411960.3:p.Leu203Ile
ENST00000510025.7:c.532C>A MANE Select	ENSP00000424940.3:p.Leu178Ile
ENST00000643250.1:c.*404C>A	ENSP00000494737.1:n.*404C>A
ENST00000644146.1:c.*110C>A	ENSP00000494808.1:n.*110C>A
ENST00000645099.1:c.91C>A	ENSP00000496091.1:p.Leu31Ile
ENST00000645702.1:c.121C>A	ENSP00000496432.1:p.Leu41Ile
ENST00000645832.1:c.*417C>A	ENSP00000494316.1:n.*417C>A
ENST00000646058.1:c.532C>A	ENSP00000493579.1:p.Leu178Ile
ENST00000646355.1:c.*538C>A	ENSP00000493801.1:n.*538C>A
ENST00000646554.1:c.*510C>A	ENSP00000494542.1:n.*510C>A
ENST00000647335.1:c.*499C>A	ENSP00000495180.1:n.*499C>A
ENST00000647342.1:c.*463C>A	ENSP00000494992.1:n.*463C>A
ENST00000256216.10:c.532C>A	ENSP00000256216.6:p.Leu178Ile
ENST00000414835.6:c.112C>A	ENSP00000411960.2:p.Leu38Ile
ENST00000442060.7:c.532C>A	ENSP00000390208.3:p.Leu178Ile
ENST00000503168.5:n.521C>A
ENST00000504811.5:c.607C>A	ENSP00000420914.1:p.Leu203Ile
ENST00000505181.5:n.235C>A
ENST00000508788.5:n.434C>A
ENST00000509514.5:c.-353C>A	ENSP00000426272.1:n.-353C>A
ENST00000510025.5:c.460C>A	ENSP00000424940.1:p.Leu154Ile
ENST00000512644.1:n.100C>A
ENST00000512841.5:n.580C>A
ENST00000513628.5:c.121C>A	ENSP00000425993.1:p.Leu41Ile
ENST00000515235.6:n.592C>A
ENST00000515320.5:c.478C>A	ENSP00000424613.1:p.Leu160Ile
NM_000414.3:c.532C>A	NP_000405.1:p.Leu178Ile
NM_001199291.2:c.607C>A	NP_001186220.1:p.Leu203Ile
NM_001199292.1:c.478C>A	NP_001186221.1:p.Leu160Ile
NM_001292027.1:c.460C>A	NP_001278956.1:p.Leu154Ile
NM_001292028.1:c.112C>A	NP_001278957.1:p.Leu38Ile
NM_000414.4:c.532C>A MANE Select	NP_000405.1:p.Leu178Ile
NM_001199291.3:c.607C>A	NP_001186220.1:p.Leu203Ile
NM_001199292.2:c.478C>A	NP_001186221.1:p.Leu160Ile
NM_001292027.2:c.460C>A	NP_001278956.1:p.Leu154Ile
NM_001292028.2:c.112C>A	NP_001278957.1:p.Leu38Ile
NM_001374497.1:c.523C>A	NP_001361426.1:p.Leu175Ile
NM_001374498.1:c.532C>A	NP_001361427.1:p.Leu178Ile
NM_001374499.1:c.205C>A	NP_001361428.1:p.Leu69Ile
NM_001374500.1:c.91C>A	NP_001361429.1:p.Leu31Ile
NM_001374501.1:c.121C>A	NP_001361430.1:p.Leu41Ile
NM_001374502.1:c.121C>A	NP_001361431.1:p.Leu41Ile
NM_001374503.1:c.121C>A	NP_001361432.1:p.Leu41Ile
NR_164653.1:n.611C>A
NR_164654.1:n.799C>A