Canonical Allele Identifier: CA446051935

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118850687C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119514992C>G , CM000667.2:g.119514992C>G	GRCh38
NC_000005.9:g.118850687C>G , CM000667.1:g.118850687C>G	GRCh37
NC_000005.8:g.118878586C>G	NCBI36
NG_008182.1:g.67540C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.1380C>G	ENSP00000426272.2:p.Ala460=
ENST00000518349.6:c.693C>G	ENSP00000507185.1:p.Ala231=
ENST00000520244.6:n.3187C>G
ENST00000682445.1:c.*1330C>G	ENSP00000508061.1:n.*1330C>G
ENST00000682531.1:n.3341C>G
ENST00000682626.1:c.*955C>G	ENSP00000507857.1:n.*955C>G
ENST00000682996.1:c.1377C>G	ENSP00000507792.1:p.Ala459=
ENST00000683265.1:n.3235C>G
ENST00000683335.1:n.2851C>G
ENST00000683371.1:c.*1579C>G	ENSP00000508376.1:n.*1579C>G
ENST00000683372.1:n.3459C>G
ENST00000683390.1:n.3139C>G
ENST00000683549.1:n.3063C>G
ENST00000683936.1:c.*3027C>G	ENSP00000507721.1:n.*3027C>G
ENST00000683974.1:n.3213-35C>G
ENST00000683996.1:c.*659C>G	ENSP00000507060.1:n.*659C>G
ENST00000684131.1:n.2981C>G
ENST00000684160.1:c.*1139C>G	ENSP00000507821.1:n.*1139C>G
ENST00000684214.1:c.1449C>G	ENSP00000508071.1:p.Ala483=
ENST00000414835.7:c.1524C>G	ENSP00000411960.3:p.Ala508=
ENST00000510025.7:c.1449C>G MANE Select	ENSP00000424940.3:p.Ala483=
ENST00000643250.1:c.*1321C>G	ENSP00000494737.1:n.*1321C>G
ENST00000644146.1:c.*2720C>G	ENSP00000494808.1:n.*2720C>G
ENST00000645099.1:c.1008C>G	ENSP00000496091.1:p.Ala336=
ENST00000645702.1:c.*852C>G	ENSP00000496432.1:n.*852C>G
ENST00000645832.1:c.*1334C>G	ENSP00000494316.1:n.*1334C>G
ENST00000646058.1:c.1449C>G	ENSP00000493579.1:p.Ala483=
ENST00000646355.1:c.*1455C>G	ENSP00000493801.1:n.*1455C>G
ENST00000646554.1:c.*1427C>G	ENSP00000494542.1:n.*1427C>G
ENST00000647335.1:c.*1416C>G	ENSP00000495180.1:n.*1416C>G
ENST00000647342.1:c.*1380C>G	ENSP00000494992.1:n.*1380C>G
ENST00000256216.10:c.1449C>G	ENSP00000256216.6:p.Ala483=
ENST00000414835.6:c.1029C>G	ENSP00000411960.2:p.Ala343=
ENST00000442060.7:c.*11C>G	ENSP00000390208.3:n.*11C>G
ENST00000504811.5:c.1524C>G	ENSP00000420914.1:p.Ala508=
ENST00000509514.5:c.663C>G	ENSP00000426272.1:p.Ala221=
ENST00000510025.5:c.1377C>G	ENSP00000424940.1:p.Ala459=
ENST00000513628.5:c.1038C>G	ENSP00000425993.1:p.Ala346=
ENST00000515235.6:n.3202C>G
ENST00000515320.5:c.1395C>G	ENSP00000424613.1:p.Ala465=
ENST00000518349.5:n.583C>G
ENST00000520244.5:n.232C>G
ENST00000522415.5:n.116C>G
NM_000414.3:c.1449C>G	NP_000405.1:p.Ala483=
NM_001199291.2:c.1524C>G	NP_001186220.1:p.Ala508=
NM_001199292.1:c.1395C>G	NP_001186221.1:p.Ala465=
NM_001292027.1:c.1377C>G	NP_001278956.1:p.Ala459=
NM_001292028.1:c.1029C>G	NP_001278957.1:p.Ala343=
NM_000414.4:c.1449C>G MANE Select	NP_000405.1:p.Ala483=
NM_001199291.3:c.1524C>G	NP_001186220.1:p.Ala508=
NM_001199292.2:c.1395C>G	NP_001186221.1:p.Ala465=
NM_001292027.2:c.1377C>G	NP_001278956.1:p.Ala459=
NM_001292028.2:c.1029C>G	NP_001278957.1:p.Ala343=
NM_001374497.1:c.1440C>G	NP_001361426.1:p.Ala480=
NM_001374498.1:c.1377C>G	NP_001361427.1:p.Ala459=
NM_001374499.1:c.1122C>G	NP_001361428.1:p.Ala374=
NM_001374500.1:c.1008C>G	NP_001361429.1:p.Ala336=
NM_001374501.1:c.1038C>G	NP_001361430.1:p.Ala346=
NM_001374502.1:c.1038C>G	NP_001361431.1:p.Ala346=
NM_001374503.1:c.1038C>G	NP_001361432.1:p.Ala346=
NR_164653.1:n.1546C>G
NR_164654.1:n.1814C>G