Canonical Allele Identifier: CA360871130

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118867022G>T (hg19) ; chr5:g.119531327G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531327G>T , CM000667.2:g.119531327G>T	GRCh38
NC_000005.9:g.118867022G>T , CM000667.1:g.118867022G>T	GRCh37
NC_000005.8:g.118894921G>T	NCBI36
NG_008182.1:g.83875G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1847G>T	ENSP00000426272.2:p.Gly616Val
ENST00000518349.6:c.1160G>T	ENSP00000507185.1:p.Gly387Val
ENST00000682445.1:c.*1797G>T	ENSP00000508061.1:n.*1797G>T
ENST00000682531.1:n.3808G>T
ENST00000682626.1:c.*1422G>T	ENSP00000507857.1:n.*1422G>T
ENST00000682996.1:c.1844G>T	ENSP00000507792.1:p.Gly615Val
ENST00000683265.1:n.3702G>T
ENST00000683335.1:n.3318G>T
ENST00000683371.1:c.*2046G>T	ENSP00000508376.1:n.*2046G>T
ENST00000683372.1:n.3926G>T
ENST00000683390.1:n.3606G>T
ENST00000683476.1:n.758G>T
ENST00000683549.1:n.3530G>T
ENST00000683936.1:c.*3494G>T	ENSP00000507721.1:n.*3494G>T
ENST00000683974.1:n.3645G>T
ENST00000683996.1:c.*1126G>T	ENSP00000507060.1:n.*1126G>T
ENST00000684131.1:n.3448G>T
ENST00000684160.1:c.*1606G>T	ENSP00000507821.1:n.*1606G>T
ENST00000684214.1:c.1854+1347G>T	ENSP00000508071.1:n.1854+1347G>T
ENST00000414835.7:c.1991G>T	ENSP00000411960.3:p.Gly664Val
ENST00000510025.7:c.1916G>T MANE Select	ENSP00000424940.3:p.Gly639Val
ENST00000643250.1:c.*1788G>T	ENSP00000494737.1:n.*1788G>T
ENST00000644146.1:c.*3187G>T	ENSP00000494808.1:n.*3187G>T
ENST00000645099.1:c.1475G>T	ENSP00000496091.1:p.Gly492Val
ENST00000645702.1:c.*1319G>T	ENSP00000496432.1:n.*1319G>T
ENST00000645832.1:c.*1801G>T	ENSP00000494316.1:n.*1801G>T
ENST00000646058.1:c.1916G>T	ENSP00000493579.1:p.Gly639Val
ENST00000646355.1:c.*1922G>T	ENSP00000493801.1:n.*1922G>T
ENST00000646554.1:c.*1894G>T	ENSP00000494542.1:n.*1894G>T
ENST00000647335.1:c.*1883G>T	ENSP00000495180.1:n.*1883G>T
ENST00000647342.1:c.*1847G>T	ENSP00000494992.1:n.*1847G>T
ENST00000256216.10:c.1916G>T	ENSP00000256216.6:p.Gly639Val
ENST00000414835.6:c.1496G>T	ENSP00000411960.2:p.Gly499Val
ENST00000442060.7:c.*471G>T	ENSP00000390208.3:n.*471G>T
ENST00000504811.5:c.1991G>T	ENSP00000420914.1:p.Gly664Val
ENST00000509514.5:c.1130G>T	ENSP00000426272.1:p.Gly377Val
ENST00000509606.1:n.211G>T
ENST00000509951.5:n.309+1347G>T
ENST00000510025.5:c.1844G>T	ENSP00000424940.1:p.Gly615Val
ENST00000513628.5:c.1505G>T	ENSP00000425993.1:p.Gly502Val
ENST00000515235.6:n.3669G>T
ENST00000515320.5:c.1862G>T	ENSP00000424613.1:p.Gly621Val
ENST00000522415.5:n.583G>T
NM_000414.3:c.1916G>T	NP_000405.1:p.Gly639Val
NM_001199291.2:c.1991G>T	NP_001186220.1:p.Gly664Val
NM_001199292.1:c.1862G>T	NP_001186221.1:p.Gly621Val
NM_001292027.1:c.1844G>T	NP_001278956.1:p.Gly615Val
NM_001292028.1:c.1496G>T	NP_001278957.1:p.Gly499Val
NM_000414.4:c.1916G>T MANE Select	NP_000405.1:p.Gly639Val
NM_001199291.3:c.1991G>T	NP_001186220.1:p.Gly664Val
NM_001199292.2:c.1862G>T	NP_001186221.1:p.Gly621Val
NM_001292027.2:c.1844G>T	NP_001278956.1:p.Gly615Val
NM_001292028.2:c.1496G>T	NP_001278957.1:p.Gly499Val
NM_001374497.1:c.1907G>T	NP_001361426.1:p.Gly636Val
NM_001374498.1:c.1844G>T	NP_001361427.1:p.Gly615Val
NM_001374499.1:c.1589G>T	NP_001361428.1:p.Gly530Val
NM_001374500.1:c.1475G>T	NP_001361429.1:p.Gly492Val
NM_001374501.1:c.1505G>T	NP_001361430.1:p.Gly502Val
NM_001374502.1:c.1505G>T	NP_001361431.1:p.Gly502Val
NM_001374503.1:c.1505G>T	NP_001361432.1:p.Gly502Val
NR_164653.1:n.2013G>T
NR_164654.1:n.2281G>T