Canonical Allele Identifier: CA446041614

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814697T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479002T>G , CM000667.2:g.119479002T>G	GRCh38
NC_000005.9:g.118814697T>G , CM000667.1:g.118814697T>G	GRCh37
NC_000005.8:g.118842596T>G	NCBI36
NG_008182.1:g.31550T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.603T>G	ENSP00000426272.2:p.Thr201=
ENST00000518349.6:c.113-17541T>G	ENSP00000507185.1:n.113-17541T>G
ENST00000682445.1:c.*484T>G	ENSP00000508061.1:n.*484T>G
ENST00000682531.1:n.704T>G
ENST00000682626.1:c.*109T>G	ENSP00000507857.1:n.*109T>G
ENST00000682996.1:c.603T>G	ENSP00000507792.1:p.Thr201=
ENST00000683265.1:n.696T>G
ENST00000683371.1:c.*733T>G	ENSP00000508376.1:n.*733T>G
ENST00000683390.1:n.2293T>G
ENST00000683549.1:n.524T>G
ENST00000683936.1:c.*488T>G	ENSP00000507721.1:n.*488T>G
ENST00000683974.1:n.685T>G
ENST00000683996.1:c.192T>G	ENSP00000507060.1:p.Thr64=
ENST00000684131.1:n.442T>G
ENST00000684160.1:c.*293T>G	ENSP00000507821.1:n.*293T>G
ENST00000684214.1:c.603T>G	ENSP00000508071.1:p.Thr201=
ENST00000414835.7:c.678T>G	ENSP00000411960.3:p.Thr226=
ENST00000510025.7:c.603T>G MANE Select	ENSP00000424940.3:p.Thr201=
ENST00000643250.1:c.*475T>G	ENSP00000494737.1:n.*475T>G
ENST00000644146.1:c.*181T>G	ENSP00000494808.1:n.*181T>G
ENST00000645099.1:c.162T>G	ENSP00000496091.1:p.Thr54=
ENST00000645702.1:c.192T>G	ENSP00000496432.1:p.Thr64=
ENST00000645832.1:c.*488T>G	ENSP00000494316.1:n.*488T>G
ENST00000646058.1:c.603T>G	ENSP00000493579.1:p.Thr201=
ENST00000646355.1:c.*609T>G	ENSP00000493801.1:n.*609T>G
ENST00000646554.1:c.*581T>G	ENSP00000494542.1:n.*581T>G
ENST00000647335.1:c.*570T>G	ENSP00000495180.1:n.*570T>G
ENST00000647342.1:c.*534T>G	ENSP00000494992.1:n.*534T>G
ENST00000256216.10:c.603T>G	ENSP00000256216.6:p.Thr201=
ENST00000414835.6:c.183T>G	ENSP00000411960.2:p.Thr61=
ENST00000442060.7:c.603T>G	ENSP00000390208.3:p.Thr201=
ENST00000504811.5:c.678T>G	ENSP00000420914.1:p.Thr226=
ENST00000505181.5:n.306T>G
ENST00000509514.5:c.-282T>G	ENSP00000426272.1:n.-282T>G
ENST00000510025.5:c.531T>G	ENSP00000424940.1:p.Thr177=
ENST00000512644.1:n.171T>G
ENST00000513628.5:c.192T>G	ENSP00000425993.1:p.Thr64=
ENST00000515235.6:n.663T>G
ENST00000515320.5:c.549T>G	ENSP00000424613.1:p.Thr183=
NM_000414.3:c.603T>G	NP_000405.1:p.Thr201=
NM_001199291.2:c.678T>G	NP_001186220.1:p.Thr226=
NM_001199292.1:c.549T>G	NP_001186221.1:p.Thr183=
NM_001292027.1:c.531T>G	NP_001278956.1:p.Thr177=
NM_001292028.1:c.183T>G	NP_001278957.1:p.Thr61=
NM_000414.4:c.603T>G MANE Select	NP_000405.1:p.Thr201=
NM_001199291.3:c.678T>G	NP_001186220.1:p.Thr226=
NM_001199292.2:c.549T>G	NP_001186221.1:p.Thr183=
NM_001292027.2:c.531T>G	NP_001278956.1:p.Thr177=
NM_001292028.2:c.183T>G	NP_001278957.1:p.Thr61=
NM_001374497.1:c.594T>G	NP_001361426.1:p.Thr198=
NM_001374498.1:c.603T>G	NP_001361427.1:p.Thr201=
NM_001374499.1:c.276T>G	NP_001361428.1:p.Thr92=
NM_001374500.1:c.162T>G	NP_001361429.1:p.Thr54=
NM_001374501.1:c.192T>G	NP_001361430.1:p.Thr64=
NM_001374502.1:c.192T>G	NP_001361431.1:p.Thr64=
NM_001374503.1:c.192T>G	NP_001361432.1:p.Thr64=
NR_164653.1:n.682T>G
NR_164654.1:n.870T>G