Canonical Allele Identifier: CA360866315

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814648G>T (hg19) ; chr5:g.119478953G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478953G>T , CM000667.2:g.119478953G>T	GRCh38
NC_000005.9:g.118814648G>T , CM000667.1:g.118814648G>T	GRCh37
NC_000005.8:g.118842547G>T	NCBI36
NG_008182.1:g.31501G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.554G>T	ENSP00000426272.2:p.Ser185Ile
ENST00000518349.6:c.113-17590G>T	ENSP00000507185.1:n.113-17590G>T
ENST00000682445.1:c.*435G>T	ENSP00000508061.1:n.*435G>T
ENST00000682531.1:n.655G>T
ENST00000682626.1:c.*60G>T	ENSP00000507857.1:n.*60G>T
ENST00000682996.1:c.554G>T	ENSP00000507792.1:p.Ser185Ile
ENST00000683265.1:n.647G>T
ENST00000683371.1:c.*684G>T	ENSP00000508376.1:n.*684G>T
ENST00000683390.1:n.2244G>T
ENST00000683549.1:n.475G>T
ENST00000683936.1:c.*439G>T	ENSP00000507721.1:n.*439G>T
ENST00000683974.1:n.636G>T
ENST00000683996.1:c.143G>T	ENSP00000507060.1:p.Ser48Ile
ENST00000684131.1:n.393G>T
ENST00000684160.1:c.*244G>T	ENSP00000507821.1:n.*244G>T
ENST00000684214.1:c.554G>T	ENSP00000508071.1:p.Ser185Ile
ENST00000414835.7:c.629G>T	ENSP00000411960.3:p.Ser210Ile
ENST00000510025.7:c.554G>T MANE Select	ENSP00000424940.3:p.Ser185Ile
ENST00000643250.1:c.*426G>T	ENSP00000494737.1:n.*426G>T
ENST00000644146.1:c.*132G>T	ENSP00000494808.1:n.*132G>T
ENST00000645099.1:c.113G>T	ENSP00000496091.1:p.Ser38Ile
ENST00000645702.1:c.143G>T	ENSP00000496432.1:p.Ser48Ile
ENST00000645832.1:c.*439G>T	ENSP00000494316.1:n.*439G>T
ENST00000646058.1:c.554G>T	ENSP00000493579.1:p.Ser185Ile
ENST00000646355.1:c.*560G>T	ENSP00000493801.1:n.*560G>T
ENST00000646554.1:c.*532G>T	ENSP00000494542.1:n.*532G>T
ENST00000647335.1:c.*521G>T	ENSP00000495180.1:n.*521G>T
ENST00000647342.1:c.*485G>T	ENSP00000494992.1:n.*485G>T
ENST00000256216.10:c.554G>T	ENSP00000256216.6:p.Ser185Ile
ENST00000414835.6:c.134G>T	ENSP00000411960.2:p.Ser45Ile
ENST00000442060.7:c.554G>T	ENSP00000390208.3:p.Ser185Ile
ENST00000503168.5:n.543G>T
ENST00000504811.5:c.629G>T	ENSP00000420914.1:p.Ser210Ile
ENST00000505181.5:n.257G>T
ENST00000509514.5:c.-331G>T	ENSP00000426272.1:n.-331G>T
ENST00000510025.5:c.482G>T	ENSP00000424940.1:p.Ser161Ile
ENST00000512644.1:n.122G>T
ENST00000513628.5:c.143G>T	ENSP00000425993.1:p.Ser48Ile
ENST00000515235.6:n.614G>T
ENST00000515320.5:c.500G>T	ENSP00000424613.1:p.Ser167Ile
NM_000414.3:c.554G>T	NP_000405.1:p.Ser185Ile
NM_001199291.2:c.629G>T	NP_001186220.1:p.Ser210Ile
NM_001199292.1:c.500G>T	NP_001186221.1:p.Ser167Ile
NM_001292027.1:c.482G>T	NP_001278956.1:p.Ser161Ile
NM_001292028.1:c.134G>T	NP_001278957.1:p.Ser45Ile
NM_000414.4:c.554G>T MANE Select	NP_000405.1:p.Ser185Ile
NM_001199291.3:c.629G>T	NP_001186220.1:p.Ser210Ile
NM_001199292.2:c.500G>T	NP_001186221.1:p.Ser167Ile
NM_001292027.2:c.482G>T	NP_001278956.1:p.Ser161Ile
NM_001292028.2:c.134G>T	NP_001278957.1:p.Ser45Ile
NM_001374497.1:c.545G>T	NP_001361426.1:p.Ser182Ile
NM_001374498.1:c.554G>T	NP_001361427.1:p.Ser185Ile
NM_001374499.1:c.227G>T	NP_001361428.1:p.Ser76Ile
NM_001374500.1:c.113G>T	NP_001361429.1:p.Ser38Ile
NM_001374501.1:c.143G>T	NP_001361430.1:p.Ser48Ile
NM_001374502.1:c.143G>T	NP_001361431.1:p.Ser48Ile
NM_001374503.1:c.143G>T	NP_001361432.1:p.Ser48Ile
NR_164653.1:n.633G>T
NR_164654.1:n.821G>T