Canonical Allele Identifier: CA3382301

Gene: HSD17B4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119525240G>A , CM000667.2:g.119525240G>A	GRCh38
NC_000005.9:g.118860935G>A , CM000667.1:g.118860935G>A	GRCh37
NC_000005.8:g.118888834G>A	NCBI36
NG_008182.1:g.77788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.1459G>A	ENSP00000426272.2:p.Asp487Asn
ENST00000518349.6:c.772G>A	ENSP00000507185.1:p.Asp258Asn
ENST00000520244.6:n.3266G>A
ENST00000682445.1:c.*1409G>A	ENSP00000508061.1:n.*1409G>A
ENST00000682531.1:n.3420G>A
ENST00000682626.1:c.*1034G>A	ENSP00000507857.1:n.*1034G>A
ENST00000682996.1:c.1456G>A	ENSP00000507792.1:p.Asp486Asn
ENST00000683265.1:n.3314G>A
ENST00000683335.1:n.2930G>A
ENST00000683371.1:c.*1658G>A	ENSP00000508376.1:n.*1658G>A
ENST00000683372.1:n.3538G>A
ENST00000683390.1:n.3218G>A
ENST00000683476.1:n.370G>A
ENST00000683549.1:n.3142G>A
ENST00000683936.1:c.*3106G>A	ENSP00000507721.1:n.*3106G>A
ENST00000683974.1:n.3257G>A
ENST00000683996.1:c.*738G>A	ENSP00000507060.1:n.*738G>A
ENST00000684131.1:n.3060G>A
ENST00000684160.1:c.*1218G>A	ENSP00000507821.1:n.*1218G>A
ENST00000684214.1:c.1528G>A	ENSP00000508071.1:p.Asp510Asn
ENST00000414835.7:c.1603G>A	ENSP00000411960.3:p.Asp535Asn
ENST00000510025.7:c.1528G>A MANE Select	ENSP00000424940.3:p.Asp510Asn
ENST00000643250.1:c.*1400G>A	ENSP00000494737.1:n.*1400G>A
ENST00000644146.1:c.*2799G>A	ENSP00000494808.1:n.*2799G>A
ENST00000645099.1:c.1087G>A	ENSP00000496091.1:p.Asp363Asn
ENST00000645702.1:c.*931G>A	ENSP00000496432.1:n.*931G>A
ENST00000645832.1:c.*1413G>A	ENSP00000494316.1:n.*1413G>A
ENST00000646058.1:c.1528G>A	ENSP00000493579.1:p.Asp510Asn
ENST00000646355.1:c.*1534G>A	ENSP00000493801.1:n.*1534G>A
ENST00000646554.1:c.*1506G>A	ENSP00000494542.1:n.*1506G>A
ENST00000647335.1:c.*1495G>A	ENSP00000495180.1:n.*1495G>A
ENST00000647342.1:c.*1459G>A	ENSP00000494992.1:n.*1459G>A
ENST00000256216.10:c.1528G>A	ENSP00000256216.6:p.Asp510Asn
ENST00000414835.6:c.1108G>A	ENSP00000411960.2:p.Asp370Asn
ENST00000442060.7:c.*90G>A	ENSP00000390208.3:n.*90G>A
ENST00000504811.5:c.1603G>A	ENSP00000420914.1:p.Asp535Asn
ENST00000509514.5:c.742G>A	ENSP00000426272.1:p.Asp248Asn
ENST00000510025.5:c.1456G>A	ENSP00000424940.1:p.Asp486Asn
ENST00000513628.5:c.1117G>A	ENSP00000425993.1:p.Asp373Asn
ENST00000515235.6:n.3281G>A
ENST00000515320.5:c.1474G>A	ENSP00000424613.1:p.Asp492Asn
ENST00000518349.5:n.662G>A
ENST00000520244.5:n.311G>A
ENST00000522415.5:n.195G>A
NM_000414.3:c.1528G>A	NP_000405.1:p.Asp510Asn
NM_001199291.2:c.1603G>A	NP_001186220.1:p.Asp535Asn
NM_001199292.1:c.1474G>A	NP_001186221.1:p.Asp492Asn
NM_001292027.1:c.1456G>A	NP_001278956.1:p.Asp486Asn
NM_001292028.1:c.1108G>A	NP_001278957.1:p.Asp370Asn
NM_000414.4:c.1528G>A MANE Select	NP_000405.1:p.Asp510Asn
NM_001199291.3:c.1603G>A	NP_001186220.1:p.Asp535Asn
NM_001199292.2:c.1474G>A	NP_001186221.1:p.Asp492Asn
NM_001292027.2:c.1456G>A	NP_001278956.1:p.Asp486Asn
NM_001292028.2:c.1108G>A	NP_001278957.1:p.Asp370Asn
NM_001374497.1:c.1519G>A	NP_001361426.1:p.Asp507Asn
NM_001374498.1:c.1456G>A	NP_001361427.1:p.Asp486Asn
NM_001374499.1:c.1201G>A	NP_001361428.1:p.Asp401Asn
NM_001374500.1:c.1087G>A	NP_001361429.1:p.Asp363Asn
NM_001374501.1:c.1117G>A	NP_001361430.1:p.Asp373Asn
NM_001374502.1:c.1117G>A	NP_001361431.1:p.Asp373Asn
NM_001374503.1:c.1117G>A	NP_001361432.1:p.Asp373Asn
NR_164653.1:n.1625G>A
NR_164654.1:n.1893G>A