Canonical Allele Identifier: CA360866163

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814578G>C (hg19) ; chr5:g.119478883G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478883G>C , CM000667.2:g.119478883G>C	GRCh38
NC_000005.9:g.118814578G>C , CM000667.1:g.118814578G>C	GRCh37
NC_000005.8:g.118842477G>C	NCBI36
NG_008182.1:g.31431G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.484G>C	ENSP00000426272.2:p.Ala162Pro
ENST00000518349.6:c.113-17660G>C	ENSP00000507185.1:n.113-17660G>C
ENST00000682445.1:c.*365G>C	ENSP00000508061.1:n.*365G>C
ENST00000682531.1:n.585G>C
ENST00000682626.1:c.512G>C	ENSP00000507857.1:p.Gly171Ala
ENST00000682996.1:c.484G>C	ENSP00000507792.1:p.Ala162Pro
ENST00000683265.1:n.577G>C
ENST00000683371.1:c.*614G>C	ENSP00000508376.1:n.*614G>C
ENST00000683390.1:n.2174G>C
ENST00000683549.1:n.405G>C
ENST00000683936.1:c.*369G>C	ENSP00000507721.1:n.*369G>C
ENST00000683974.1:n.566G>C
ENST00000683996.1:c.73G>C	ENSP00000507060.1:p.Ala25Pro
ENST00000684131.1:n.323G>C
ENST00000684160.1:c.*174G>C	ENSP00000507821.1:n.*174G>C
ENST00000684214.1:c.484G>C	ENSP00000508071.1:p.Ala162Pro
ENST00000414835.7:c.559G>C	ENSP00000411960.3:p.Ala187Pro
ENST00000510025.7:c.484G>C MANE Select	ENSP00000424940.3:p.Ala162Pro
ENST00000643250.1:c.*356G>C	ENSP00000494737.1:n.*356G>C
ENST00000644146.1:c.*62G>C	ENSP00000494808.1:n.*62G>C
ENST00000645099.1:c.43G>C	ENSP00000496091.1:p.Ala15Pro
ENST00000645702.1:c.73G>C	ENSP00000496432.1:p.Ala25Pro
ENST00000645832.1:c.*369G>C	ENSP00000494316.1:n.*369G>C
ENST00000646058.1:c.484G>C	ENSP00000493579.1:p.Ala162Pro
ENST00000646355.1:c.*490G>C	ENSP00000493801.1:n.*490G>C
ENST00000646554.1:c.*462G>C	ENSP00000494542.1:n.*462G>C
ENST00000646590.1:c.475G>C	ENSP00000494892.1:p.Ala159Pro
ENST00000647335.1:c.*451G>C	ENSP00000495180.1:n.*451G>C
ENST00000647342.1:c.*415G>C	ENSP00000494992.1:n.*415G>C
ENST00000256216.10:c.484G>C	ENSP00000256216.6:p.Ala162Pro
ENST00000414835.6:c.64G>C	ENSP00000411960.2:p.Ala22Pro
ENST00000442060.7:c.484G>C	ENSP00000390208.3:p.Ala162Pro
ENST00000503168.5:n.473G>C
ENST00000504811.5:c.559G>C	ENSP00000420914.1:p.Ala187Pro
ENST00000505181.5:n.187G>C
ENST00000508788.5:n.386G>C
ENST00000509514.5:c.-401G>C	ENSP00000426272.1:n.-401G>C
ENST00000510025.5:c.412G>C	ENSP00000424940.1:p.Ala138Pro
ENST00000512644.1:n.52G>C
ENST00000512841.5:n.532G>C
ENST00000513628.5:c.73G>C	ENSP00000425993.1:p.Ala25Pro
ENST00000515235.6:n.544G>C
ENST00000515320.5:c.430G>C	ENSP00000424613.1:p.Ala144Pro
NM_000414.3:c.484G>C	NP_000405.1:p.Ala162Pro
NM_001199291.2:c.559G>C	NP_001186220.1:p.Ala187Pro
NM_001199292.1:c.430G>C	NP_001186221.1:p.Ala144Pro
NM_001292027.1:c.412G>C	NP_001278956.1:p.Ala138Pro
NM_001292028.1:c.64G>C	NP_001278957.1:p.Ala22Pro
NM_000414.4:c.484G>C MANE Select	NP_000405.1:p.Ala162Pro
NM_001199291.3:c.559G>C	NP_001186220.1:p.Ala187Pro
NM_001199292.2:c.430G>C	NP_001186221.1:p.Ala144Pro
NM_001292027.2:c.412G>C	NP_001278956.1:p.Ala138Pro
NM_001292028.2:c.64G>C	NP_001278957.1:p.Ala22Pro
NM_001374497.1:c.475G>C	NP_001361426.1:p.Ala159Pro
NM_001374498.1:c.484G>C	NP_001361427.1:p.Ala162Pro
NM_001374499.1:c.157G>C	NP_001361428.1:p.Ala53Pro
NM_001374500.1:c.43G>C	NP_001361429.1:p.Ala15Pro
NM_001374501.1:c.73G>C	NP_001361430.1:p.Ala25Pro
NM_001374502.1:c.73G>C	NP_001361431.1:p.Ala25Pro
NM_001374503.1:c.73G>C	NP_001361432.1:p.Ala25Pro
NR_164653.1:n.563G>C
NR_164654.1:n.751G>C