Canonical Allele Identifier: CA360868906

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118850685G>C (hg19) ; chr5:g.119514990G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119514990G>C , CM000667.2:g.119514990G>C	GRCh38
NC_000005.9:g.118850685G>C , CM000667.1:g.118850685G>C	GRCh37
NC_000005.8:g.118878584G>C	NCBI36
NG_008182.1:g.67538G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1378G>C	ENSP00000426272.2:p.Ala460Pro
ENST00000518349.6:c.691G>C	ENSP00000507185.1:p.Ala231Pro
ENST00000520244.6:n.3185G>C
ENST00000682445.1:c.*1328G>C	ENSP00000508061.1:n.*1328G>C
ENST00000682531.1:n.3339G>C
ENST00000682626.1:c.*953G>C	ENSP00000507857.1:n.*953G>C
ENST00000682996.1:c.1375G>C	ENSP00000507792.1:p.Ala459Pro
ENST00000683265.1:n.3233G>C
ENST00000683335.1:n.2849G>C
ENST00000683371.1:c.*1577G>C	ENSP00000508376.1:n.*1577G>C
ENST00000683372.1:n.3457G>C
ENST00000683390.1:n.3137G>C
ENST00000683549.1:n.3061G>C
ENST00000683936.1:c.*3025G>C	ENSP00000507721.1:n.*3025G>C
ENST00000683974.1:n.3213-37G>C
ENST00000683996.1:c.*657G>C	ENSP00000507060.1:n.*657G>C
ENST00000684131.1:n.2979G>C
ENST00000684160.1:c.*1137G>C	ENSP00000507821.1:n.*1137G>C
ENST00000684214.1:c.1447G>C	ENSP00000508071.1:p.Ala483Pro
ENST00000414835.7:c.1522G>C	ENSP00000411960.3:p.Ala508Pro
ENST00000510025.7:c.1447G>C MANE Select	ENSP00000424940.3:p.Ala483Pro
ENST00000643250.1:c.*1319G>C	ENSP00000494737.1:n.*1319G>C
ENST00000644146.1:c.*2718G>C	ENSP00000494808.1:n.*2718G>C
ENST00000645099.1:c.1006G>C	ENSP00000496091.1:p.Ala336Pro
ENST00000645702.1:c.*850G>C	ENSP00000496432.1:n.*850G>C
ENST00000645832.1:c.*1332G>C	ENSP00000494316.1:n.*1332G>C
ENST00000646058.1:c.1447G>C	ENSP00000493579.1:p.Ala483Pro
ENST00000646355.1:c.*1453G>C	ENSP00000493801.1:n.*1453G>C
ENST00000646554.1:c.*1425G>C	ENSP00000494542.1:n.*1425G>C
ENST00000647335.1:c.*1414G>C	ENSP00000495180.1:n.*1414G>C
ENST00000647342.1:c.*1378G>C	ENSP00000494992.1:n.*1378G>C
ENST00000256216.10:c.1447G>C	ENSP00000256216.6:p.Ala483Pro
ENST00000414835.6:c.1027G>C	ENSP00000411960.2:p.Ala343Pro
ENST00000442060.7:c.*9G>C	ENSP00000390208.3:n.*9G>C
ENST00000504811.5:c.1522G>C	ENSP00000420914.1:p.Ala508Pro
ENST00000509514.5:c.661G>C	ENSP00000426272.1:p.Ala221Pro
ENST00000510025.5:c.1375G>C	ENSP00000424940.1:p.Ala459Pro
ENST00000513628.5:c.1036G>C	ENSP00000425993.1:p.Ala346Pro
ENST00000515235.6:n.3200G>C
ENST00000515320.5:c.1393G>C	ENSP00000424613.1:p.Ala465Pro
ENST00000518349.5:n.581G>C
ENST00000520244.5:n.230G>C
ENST00000522415.5:n.114G>C
NM_000414.3:c.1447G>C	NP_000405.1:p.Ala483Pro
NM_001199291.2:c.1522G>C	NP_001186220.1:p.Ala508Pro
NM_001199292.1:c.1393G>C	NP_001186221.1:p.Ala465Pro
NM_001292027.1:c.1375G>C	NP_001278956.1:p.Ala459Pro
NM_001292028.1:c.1027G>C	NP_001278957.1:p.Ala343Pro
NM_000414.4:c.1447G>C MANE Select	NP_000405.1:p.Ala483Pro
NM_001199291.3:c.1522G>C	NP_001186220.1:p.Ala508Pro
NM_001199292.2:c.1393G>C	NP_001186221.1:p.Ala465Pro
NM_001292027.2:c.1375G>C	NP_001278956.1:p.Ala459Pro
NM_001292028.2:c.1027G>C	NP_001278957.1:p.Ala343Pro
NM_001374497.1:c.1438G>C	NP_001361426.1:p.Ala480Pro
NM_001374498.1:c.1375G>C	NP_001361427.1:p.Ala459Pro
NM_001374499.1:c.1120G>C	NP_001361428.1:p.Ala374Pro
NM_001374500.1:c.1006G>C	NP_001361429.1:p.Ala336Pro
NM_001374501.1:c.1036G>C	NP_001361430.1:p.Ala346Pro
NM_001374502.1:c.1036G>C	NP_001361431.1:p.Ala346Pro
NM_001374503.1:c.1036G>C	NP_001361432.1:p.Ala346Pro
NR_164653.1:n.1544G>C
NR_164654.1:n.1812G>C