Canonical Allele Identifier: CA360866169

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814581A>G (hg19) ; chr5:g.119478886A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478886A>G , CM000667.2:g.119478886A>G	GRCh38
NC_000005.9:g.118814581A>G , CM000667.1:g.118814581A>G	GRCh37
NC_000005.8:g.118842480A>G	NCBI36
NG_008182.1:g.31434A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.487A>G	ENSP00000426272.2:p.Asn163Asp
ENST00000518349.6:c.113-17657A>G	ENSP00000507185.1:n.113-17657A>G
ENST00000682445.1:c.*368A>G	ENSP00000508061.1:n.*368A>G
ENST00000682531.1:n.588A>G
ENST00000682626.1:c.515A>G	ENSP00000507857.1:p.Gln172Arg
ENST00000682996.1:c.487A>G	ENSP00000507792.1:p.Asn163Asp
ENST00000683265.1:n.580A>G
ENST00000683371.1:c.*617A>G	ENSP00000508376.1:n.*617A>G
ENST00000683390.1:n.2177A>G
ENST00000683549.1:n.408A>G
ENST00000683936.1:c.*372A>G	ENSP00000507721.1:n.*372A>G
ENST00000683974.1:n.569A>G
ENST00000683996.1:c.76A>G	ENSP00000507060.1:p.Asn26Asp
ENST00000684131.1:n.326A>G
ENST00000684160.1:c.*177A>G	ENSP00000507821.1:n.*177A>G
ENST00000684214.1:c.487A>G	ENSP00000508071.1:p.Asn163Asp
ENST00000414835.7:c.562A>G	ENSP00000411960.3:p.Asn188Asp
ENST00000510025.7:c.487A>G MANE Select	ENSP00000424940.3:p.Asn163Asp
ENST00000643250.1:c.*359A>G	ENSP00000494737.1:n.*359A>G
ENST00000644146.1:c.*65A>G	ENSP00000494808.1:n.*65A>G
ENST00000645099.1:c.46A>G	ENSP00000496091.1:p.Asn16Asp
ENST00000645702.1:c.76A>G	ENSP00000496432.1:p.Asn26Asp
ENST00000645832.1:c.*372A>G	ENSP00000494316.1:n.*372A>G
ENST00000646058.1:c.487A>G	ENSP00000493579.1:p.Asn163Asp
ENST00000646355.1:c.*493A>G	ENSP00000493801.1:n.*493A>G
ENST00000646554.1:c.*465A>G	ENSP00000494542.1:n.*465A>G
ENST00000646590.1:c.478A>G	ENSP00000494892.1:p.Asn160Asp
ENST00000647335.1:c.*454A>G	ENSP00000495180.1:n.*454A>G
ENST00000647342.1:c.*418A>G	ENSP00000494992.1:n.*418A>G
ENST00000256216.10:c.487A>G	ENSP00000256216.6:p.Asn163Asp
ENST00000414835.6:c.67A>G	ENSP00000411960.2:p.Asn23Asp
ENST00000442060.7:c.487A>G	ENSP00000390208.3:p.Asn163Asp
ENST00000503168.5:n.476A>G
ENST00000504811.5:c.562A>G	ENSP00000420914.1:p.Asn188Asp
ENST00000505181.5:n.190A>G
ENST00000508788.5:n.389A>G
ENST00000509514.5:c.-398A>G	ENSP00000426272.1:n.-398A>G
ENST00000510025.5:c.415A>G	ENSP00000424940.1:p.Asn139Asp
ENST00000512644.1:n.55A>G
ENST00000512841.5:n.535A>G
ENST00000513628.5:c.76A>G	ENSP00000425993.1:p.Asn26Asp
ENST00000515235.6:n.547A>G
ENST00000515320.5:c.433A>G	ENSP00000424613.1:p.Asn145Asp
NM_000414.3:c.487A>G	NP_000405.1:p.Asn163Asp
NM_001199291.2:c.562A>G	NP_001186220.1:p.Asn188Asp
NM_001199292.1:c.433A>G	NP_001186221.1:p.Asn145Asp
NM_001292027.1:c.415A>G	NP_001278956.1:p.Asn139Asp
NM_001292028.1:c.67A>G	NP_001278957.1:p.Asn23Asp
NM_000414.4:c.487A>G MANE Select	NP_000405.1:p.Asn163Asp
NM_001199291.3:c.562A>G	NP_001186220.1:p.Asn188Asp
NM_001199292.2:c.433A>G	NP_001186221.1:p.Asn145Asp
NM_001292027.2:c.415A>G	NP_001278956.1:p.Asn139Asp
NM_001292028.2:c.67A>G	NP_001278957.1:p.Asn23Asp
NM_001374497.1:c.478A>G	NP_001361426.1:p.Asn160Asp
NM_001374498.1:c.487A>G	NP_001361427.1:p.Asn163Asp
NM_001374499.1:c.160A>G	NP_001361428.1:p.Asn54Asp
NM_001374500.1:c.46A>G	NP_001361429.1:p.Asn16Asp
NM_001374501.1:c.76A>G	NP_001361430.1:p.Asn26Asp
NM_001374502.1:c.76A>G	NP_001361431.1:p.Asn26Asp
NM_001374503.1:c.76A>G	NP_001361432.1:p.Asn26Asp
NR_164653.1:n.566A>G
NR_164654.1:n.754A>G