Canonical Allele Identifier: CA360871099

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1392227934
• gnomAD v4: 5-119531321-A-G
• MyVariant Identifiers: chr5:g.118867016A>G (hg19) ; chr5:g.119531321A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1841A>G	ENSP00000426272.2:p.Asp614Gly
ENST00000518349.6:c.1154A>G	ENSP00000507185.1:p.Asp385Gly
ENST00000682445.1:c.*1791A>G	ENSP00000508061.1:n.*1791A>G
ENST00000682531.1:n.3802A>G
ENST00000682626.1:c.*1416A>G	ENSP00000507857.1:n.*1416A>G
ENST00000682996.1:c.1838A>G	ENSP00000507792.1:p.Asp613Gly
ENST00000683265.1:n.3696A>G
ENST00000683335.1:n.3312A>G
ENST00000683371.1:c.*2040A>G	ENSP00000508376.1:n.*2040A>G
ENST00000683372.1:n.3920A>G
ENST00000683390.1:n.3600A>G
ENST00000683476.1:n.752A>G
ENST00000683549.1:n.3524A>G
ENST00000683936.1:c.*3488A>G	ENSP00000507721.1:n.*3488A>G
ENST00000683974.1:n.3639A>G
ENST00000683996.1:c.*1120A>G	ENSP00000507060.1:n.*1120A>G
ENST00000684131.1:n.3442A>G
ENST00000684160.1:c.*1600A>G	ENSP00000507821.1:n.*1600A>G
ENST00000684214.1:c.1854+1341A>G	ENSP00000508071.1:n.1854+1341A>G
ENST00000414835.7:c.1985A>G	ENSP00000411960.3:p.Asp662Gly
ENST00000510025.7:c.1910A>G MANE Select	ENSP00000424940.3:p.Asp637Gly
ENST00000643250.1:c.*1782A>G	ENSP00000494737.1:n.*1782A>G
ENST00000644146.1:c.*3181A>G	ENSP00000494808.1:n.*3181A>G
ENST00000645099.1:c.1469A>G	ENSP00000496091.1:p.Asp490Gly
ENST00000645702.1:c.*1313A>G	ENSP00000496432.1:n.*1313A>G
ENST00000645832.1:c.*1795A>G	ENSP00000494316.1:n.*1795A>G
ENST00000646058.1:c.1910A>G	ENSP00000493579.1:p.Asp637Gly
ENST00000646355.1:c.*1916A>G	ENSP00000493801.1:n.*1916A>G
ENST00000646554.1:c.*1888A>G	ENSP00000494542.1:n.*1888A>G
ENST00000647335.1:c.*1877A>G	ENSP00000495180.1:n.*1877A>G
ENST00000647342.1:c.*1841A>G	ENSP00000494992.1:n.*1841A>G
ENST00000256216.10:c.1910A>G	ENSP00000256216.6:p.Asp637Gly
ENST00000414835.6:c.1490A>G	ENSP00000411960.2:p.Asp497Gly
ENST00000442060.7:c.*465A>G	ENSP00000390208.3:n.*465A>G
ENST00000504811.5:c.1985A>G	ENSP00000420914.1:p.Asp662Gly
ENST00000509514.5:c.1124A>G	ENSP00000426272.1:p.Asp375Gly
ENST00000509606.1:n.205A>G
ENST00000509951.5:n.309+1341A>G
ENST00000510025.5:c.1838A>G	ENSP00000424940.1:p.Asp613Gly
ENST00000513628.5:c.1499A>G	ENSP00000425993.1:p.Asp500Gly
ENST00000515235.6:n.3663A>G
ENST00000515320.5:c.1856A>G	ENSP00000424613.1:p.Asp619Gly
ENST00000522415.5:n.577A>G
NM_000414.3:c.1910A>G	NP_000405.1:p.Asp637Gly
NM_001199291.2:c.1985A>G	NP_001186220.1:p.Asp662Gly
NM_001199292.1:c.1856A>G	NP_001186221.1:p.Asp619Gly
NM_001292027.1:c.1838A>G	NP_001278956.1:p.Asp613Gly
NM_001292028.1:c.1490A>G	NP_001278957.1:p.Asp497Gly
NM_000414.4:c.1910A>G MANE Select	NP_000405.1:p.Asp637Gly
NM_001199291.3:c.1985A>G	NP_001186220.1:p.Asp662Gly
NM_001199292.2:c.1856A>G	NP_001186221.1:p.Asp619Gly
NM_001292027.2:c.1838A>G	NP_001278956.1:p.Asp613Gly
NM_001292028.2:c.1490A>G	NP_001278957.1:p.Asp497Gly
NM_001374497.1:c.1901A>G	NP_001361426.1:p.Asp634Gly
NM_001374498.1:c.1838A>G	NP_001361427.1:p.Asp613Gly
NM_001374499.1:c.1583A>G	NP_001361428.1:p.Asp528Gly
NM_001374500.1:c.1469A>G	NP_001361429.1:p.Asp490Gly
NM_001374501.1:c.1499A>G	NP_001361430.1:p.Asp500Gly
NM_001374502.1:c.1499A>G	NP_001361431.1:p.Asp500Gly
NM_001374503.1:c.1499A>G	NP_001361432.1:p.Asp500Gly
NR_164653.1:n.2007A>G
NR_164654.1:n.2275A>G