Canonical Allele Identifier: CA360868916

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118850691C>G (hg19) ; chr5:g.119514996C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119514996C>G , CM000667.2:g.119514996C>G	GRCh38
NC_000005.9:g.118850691C>G , CM000667.1:g.118850691C>G	GRCh37
NC_000005.8:g.118878590C>G	NCBI36
NG_008182.1:g.67544C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.1384C>G	ENSP00000426272.2:p.Pro462Ala
ENST00000518349.6:c.697C>G	ENSP00000507185.1:p.Pro233Ala
ENST00000520244.6:n.3191C>G
ENST00000682445.1:c.*1334C>G	ENSP00000508061.1:n.*1334C>G
ENST00000682531.1:n.3345C>G
ENST00000682626.1:c.*959C>G	ENSP00000507857.1:n.*959C>G
ENST00000682996.1:c.1381C>G	ENSP00000507792.1:p.Pro461Ala
ENST00000683265.1:n.3239C>G
ENST00000683335.1:n.2855C>G
ENST00000683371.1:c.*1583C>G	ENSP00000508376.1:n.*1583C>G
ENST00000683372.1:n.3463C>G
ENST00000683390.1:n.3143C>G
ENST00000683549.1:n.3067C>G
ENST00000683936.1:c.*3031C>G	ENSP00000507721.1:n.*3031C>G
ENST00000683974.1:n.3213-31C>G
ENST00000683996.1:c.*663C>G	ENSP00000507060.1:n.*663C>G
ENST00000684131.1:n.2985C>G
ENST00000684160.1:c.*1143C>G	ENSP00000507821.1:n.*1143C>G
ENST00000684214.1:c.1453C>G	ENSP00000508071.1:p.Pro485Ala
ENST00000414835.7:c.1528C>G	ENSP00000411960.3:p.Pro510Ala
ENST00000510025.7:c.1453C>G MANE Select	ENSP00000424940.3:p.Pro485Ala
ENST00000643250.1:c.*1325C>G	ENSP00000494737.1:n.*1325C>G
ENST00000644146.1:c.*2724C>G	ENSP00000494808.1:n.*2724C>G
ENST00000645099.1:c.1012C>G	ENSP00000496091.1:p.Pro338Ala
ENST00000645702.1:c.*856C>G	ENSP00000496432.1:n.*856C>G
ENST00000645832.1:c.*1338C>G	ENSP00000494316.1:n.*1338C>G
ENST00000646058.1:c.1453C>G	ENSP00000493579.1:p.Pro485Ala
ENST00000646355.1:c.*1459C>G	ENSP00000493801.1:n.*1459C>G
ENST00000646554.1:c.*1431C>G	ENSP00000494542.1:n.*1431C>G
ENST00000647335.1:c.*1420C>G	ENSP00000495180.1:n.*1420C>G
ENST00000647342.1:c.*1384C>G	ENSP00000494992.1:n.*1384C>G
ENST00000256216.10:c.1453C>G	ENSP00000256216.6:p.Pro485Ala
ENST00000414835.6:c.1033C>G	ENSP00000411960.2:p.Pro345Ala
ENST00000442060.7:c.*15C>G	ENSP00000390208.3:n.*15C>G
ENST00000504811.5:c.1528C>G	ENSP00000420914.1:p.Pro510Ala
ENST00000509514.5:c.667C>G	ENSP00000426272.1:p.Pro223Ala
ENST00000510025.5:c.1381C>G	ENSP00000424940.1:p.Pro461Ala
ENST00000513628.5:c.1042C>G	ENSP00000425993.1:p.Pro348Ala
ENST00000515235.6:n.3206C>G
ENST00000515320.5:c.1399C>G	ENSP00000424613.1:p.Pro467Ala
ENST00000518349.5:n.587C>G
ENST00000520244.5:n.236C>G
ENST00000522415.5:n.120C>G
NM_000414.3:c.1453C>G	NP_000405.1:p.Pro485Ala
NM_001199291.2:c.1528C>G	NP_001186220.1:p.Pro510Ala
NM_001199292.1:c.1399C>G	NP_001186221.1:p.Pro467Ala
NM_001292027.1:c.1381C>G	NP_001278956.1:p.Pro461Ala
NM_001292028.1:c.1033C>G	NP_001278957.1:p.Pro345Ala
NM_000414.4:c.1453C>G MANE Select	NP_000405.1:p.Pro485Ala
NM_001199291.3:c.1528C>G	NP_001186220.1:p.Pro510Ala
NM_001199292.2:c.1399C>G	NP_001186221.1:p.Pro467Ala
NM_001292027.2:c.1381C>G	NP_001278956.1:p.Pro461Ala
NM_001292028.2:c.1033C>G	NP_001278957.1:p.Pro345Ala
NM_001374497.1:c.1444C>G	NP_001361426.1:p.Pro482Ala
NM_001374498.1:c.1381C>G	NP_001361427.1:p.Pro461Ala
NM_001374499.1:c.1126C>G	NP_001361428.1:p.Pro376Ala
NM_001374500.1:c.1012C>G	NP_001361429.1:p.Pro338Ala
NM_001374501.1:c.1042C>G	NP_001361430.1:p.Pro348Ala
NM_001374502.1:c.1042C>G	NP_001361431.1:p.Pro348Ala
NM_001374503.1:c.1042C>G	NP_001361432.1:p.Pro348Ala
NR_164653.1:n.1550C>G
NR_164654.1:n.1818C>G