Canonical Allele Identifier: CA360866197

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814591C>T (hg19) ; chr5:g.119478896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478896C>T , CM000667.2:g.119478896C>T	GRCh38
NC_000005.9:g.118814591C>T , CM000667.1:g.118814591C>T	GRCh37
NC_000005.8:g.118842490C>T	NCBI36
NG_008182.1:g.31444C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.497C>T	ENSP00000426272.2:p.Ala166Val
ENST00000518349.6:c.113-17647C>T	ENSP00000507185.1:n.113-17647C>T
ENST00000682445.1:c.*378C>T	ENSP00000508061.1:n.*378C>T
ENST00000682531.1:n.598C>T
ENST00000682626.1:c.*3C>T	ENSP00000507857.1:n.*3C>T
ENST00000682996.1:c.497C>T	ENSP00000507792.1:p.Ala166Val
ENST00000683265.1:n.590C>T
ENST00000683371.1:c.*627C>T	ENSP00000508376.1:n.*627C>T
ENST00000683390.1:n.2187C>T
ENST00000683549.1:n.418C>T
ENST00000683936.1:c.*382C>T	ENSP00000507721.1:n.*382C>T
ENST00000683974.1:n.579C>T
ENST00000683996.1:c.86C>T	ENSP00000507060.1:p.Ala29Val
ENST00000684131.1:n.336C>T
ENST00000684160.1:c.*187C>T	ENSP00000507821.1:n.*187C>T
ENST00000684214.1:c.497C>T	ENSP00000508071.1:p.Ala166Val
ENST00000414835.7:c.572C>T	ENSP00000411960.3:p.Ala191Val
ENST00000510025.7:c.497C>T MANE Select	ENSP00000424940.3:p.Ala166Val
ENST00000643250.1:c.*369C>T	ENSP00000494737.1:n.*369C>T
ENST00000644146.1:c.*75C>T	ENSP00000494808.1:n.*75C>T
ENST00000645099.1:c.56C>T	ENSP00000496091.1:p.Ala19Val
ENST00000645702.1:c.86C>T	ENSP00000496432.1:p.Ala29Val
ENST00000645832.1:c.*382C>T	ENSP00000494316.1:n.*382C>T
ENST00000646058.1:c.497C>T	ENSP00000493579.1:p.Ala166Val
ENST00000646355.1:c.*503C>T	ENSP00000493801.1:n.*503C>T
ENST00000646554.1:c.*475C>T	ENSP00000494542.1:n.*475C>T
ENST00000646590.1:c.488C>T	ENSP00000494892.1:p.Ala163Val
ENST00000647335.1:c.*464C>T	ENSP00000495180.1:n.*464C>T
ENST00000647342.1:c.*428C>T	ENSP00000494992.1:n.*428C>T
ENST00000256216.10:c.497C>T	ENSP00000256216.6:p.Ala166Val
ENST00000414835.6:c.77C>T	ENSP00000411960.2:p.Ala26Val
ENST00000442060.7:c.497C>T	ENSP00000390208.3:p.Ala166Val
ENST00000503168.5:n.486C>T
ENST00000504811.5:c.572C>T	ENSP00000420914.1:p.Ala191Val
ENST00000505181.5:n.200C>T
ENST00000508788.5:n.399C>T
ENST00000509514.5:c.-388C>T	ENSP00000426272.1:n.-388C>T
ENST00000510025.5:c.425C>T	ENSP00000424940.1:p.Ala142Val
ENST00000512644.1:n.65C>T
ENST00000512841.5:n.545C>T
ENST00000513628.5:c.86C>T	ENSP00000425993.1:p.Ala29Val
ENST00000515235.6:n.557C>T
ENST00000515320.5:c.443C>T	ENSP00000424613.1:p.Ala148Val
NM_000414.3:c.497C>T	NP_000405.1:p.Ala166Val
NM_001199291.2:c.572C>T	NP_001186220.1:p.Ala191Val
NM_001199292.1:c.443C>T	NP_001186221.1:p.Ala148Val
NM_001292027.1:c.425C>T	NP_001278956.1:p.Ala142Val
NM_001292028.1:c.77C>T	NP_001278957.1:p.Ala26Val
NM_000414.4:c.497C>T MANE Select	NP_000405.1:p.Ala166Val
NM_001199291.3:c.572C>T	NP_001186220.1:p.Ala191Val
NM_001199292.2:c.443C>T	NP_001186221.1:p.Ala148Val
NM_001292027.2:c.425C>T	NP_001278956.1:p.Ala142Val
NM_001292028.2:c.77C>T	NP_001278957.1:p.Ala26Val
NM_001374497.1:c.488C>T	NP_001361426.1:p.Ala163Val
NM_001374498.1:c.497C>T	NP_001361427.1:p.Ala166Val
NM_001374499.1:c.170C>T	NP_001361428.1:p.Ala57Val
NM_001374500.1:c.56C>T	NP_001361429.1:p.Ala19Val
NM_001374501.1:c.86C>T	NP_001361430.1:p.Ala29Val
NM_001374502.1:c.86C>T	NP_001361431.1:p.Ala29Val
NM_001374503.1:c.86C>T	NP_001361432.1:p.Ala29Val
NR_164653.1:n.576C>T
NR_164654.1:n.764C>T