Canonical Allele Identifier: CA360871103

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118867016A>C (hg19) ; chr5:g.119531321A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531321A>C , CM000667.2:g.119531321A>C	GRCh38
NC_000005.9:g.118867016A>C , CM000667.1:g.118867016A>C	GRCh37
NC_000005.8:g.118894915A>C	NCBI36
NG_008182.1:g.83869A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1841A>C	ENSP00000426272.2:p.Asp614Ala
ENST00000518349.6:c.1154A>C	ENSP00000507185.1:p.Asp385Ala
ENST00000682445.1:c.*1791A>C	ENSP00000508061.1:n.*1791A>C
ENST00000682531.1:n.3802A>C
ENST00000682626.1:c.*1416A>C	ENSP00000507857.1:n.*1416A>C
ENST00000682996.1:c.1838A>C	ENSP00000507792.1:p.Asp613Ala
ENST00000683265.1:n.3696A>C
ENST00000683335.1:n.3312A>C
ENST00000683371.1:c.*2040A>C	ENSP00000508376.1:n.*2040A>C
ENST00000683372.1:n.3920A>C
ENST00000683390.1:n.3600A>C
ENST00000683476.1:n.752A>C
ENST00000683549.1:n.3524A>C
ENST00000683936.1:c.*3488A>C	ENSP00000507721.1:n.*3488A>C
ENST00000683974.1:n.3639A>C
ENST00000683996.1:c.*1120A>C	ENSP00000507060.1:n.*1120A>C
ENST00000684131.1:n.3442A>C
ENST00000684160.1:c.*1600A>C	ENSP00000507821.1:n.*1600A>C
ENST00000684214.1:c.1854+1341A>C	ENSP00000508071.1:n.1854+1341A>C
ENST00000414835.7:c.1985A>C	ENSP00000411960.3:p.Asp662Ala
ENST00000510025.7:c.1910A>C MANE Select	ENSP00000424940.3:p.Asp637Ala
ENST00000643250.1:c.*1782A>C	ENSP00000494737.1:n.*1782A>C
ENST00000644146.1:c.*3181A>C	ENSP00000494808.1:n.*3181A>C
ENST00000645099.1:c.1469A>C	ENSP00000496091.1:p.Asp490Ala
ENST00000645702.1:c.*1313A>C	ENSP00000496432.1:n.*1313A>C
ENST00000645832.1:c.*1795A>C	ENSP00000494316.1:n.*1795A>C
ENST00000646058.1:c.1910A>C	ENSP00000493579.1:p.Asp637Ala
ENST00000646355.1:c.*1916A>C	ENSP00000493801.1:n.*1916A>C
ENST00000646554.1:c.*1888A>C	ENSP00000494542.1:n.*1888A>C
ENST00000647335.1:c.*1877A>C	ENSP00000495180.1:n.*1877A>C
ENST00000647342.1:c.*1841A>C	ENSP00000494992.1:n.*1841A>C
ENST00000256216.10:c.1910A>C	ENSP00000256216.6:p.Asp637Ala
ENST00000414835.6:c.1490A>C	ENSP00000411960.2:p.Asp497Ala
ENST00000442060.7:c.*465A>C	ENSP00000390208.3:n.*465A>C
ENST00000504811.5:c.1985A>C	ENSP00000420914.1:p.Asp662Ala
ENST00000509514.5:c.1124A>C	ENSP00000426272.1:p.Asp375Ala
ENST00000509606.1:n.205A>C
ENST00000509951.5:n.309+1341A>C
ENST00000510025.5:c.1838A>C	ENSP00000424940.1:p.Asp613Ala
ENST00000513628.5:c.1499A>C	ENSP00000425993.1:p.Asp500Ala
ENST00000515235.6:n.3663A>C
ENST00000515320.5:c.1856A>C	ENSP00000424613.1:p.Asp619Ala
ENST00000522415.5:n.577A>C
NM_000414.3:c.1910A>C	NP_000405.1:p.Asp637Ala
NM_001199291.2:c.1985A>C	NP_001186220.1:p.Asp662Ala
NM_001199292.1:c.1856A>C	NP_001186221.1:p.Asp619Ala
NM_001292027.1:c.1838A>C	NP_001278956.1:p.Asp613Ala
NM_001292028.1:c.1490A>C	NP_001278957.1:p.Asp497Ala
NM_000414.4:c.1910A>C MANE Select	NP_000405.1:p.Asp637Ala
NM_001199291.3:c.1985A>C	NP_001186220.1:p.Asp662Ala
NM_001199292.2:c.1856A>C	NP_001186221.1:p.Asp619Ala
NM_001292027.2:c.1838A>C	NP_001278956.1:p.Asp613Ala
NM_001292028.2:c.1490A>C	NP_001278957.1:p.Asp497Ala
NM_001374497.1:c.1901A>C	NP_001361426.1:p.Asp634Ala
NM_001374498.1:c.1838A>C	NP_001361427.1:p.Asp613Ala
NM_001374499.1:c.1583A>C	NP_001361428.1:p.Asp528Ala
NM_001374500.1:c.1469A>C	NP_001361429.1:p.Asp490Ala
NM_001374501.1:c.1499A>C	NP_001361430.1:p.Asp500Ala
NM_001374502.1:c.1499A>C	NP_001361431.1:p.Asp500Ala
NM_001374503.1:c.1499A>C	NP_001361432.1:p.Asp500Ala
NR_164653.1:n.2007A>C
NR_164654.1:n.2275A>C