Canonical Allele Identifier: CA360866289

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814637A>C (hg19) ; chr5:g.119478942A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478942A>C , CM000667.2:g.119478942A>C	GRCh38
NC_000005.9:g.118814637A>C , CM000667.1:g.118814637A>C	GRCh37
NC_000005.8:g.118842536A>C	NCBI36
NG_008182.1:g.31490A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.543A>C	ENSP00000426272.2:p.Glu181Asp
ENST00000518349.6:c.113-17601A>C	ENSP00000507185.1:n.113-17601A>C
ENST00000682445.1:c.*424A>C	ENSP00000508061.1:n.*424A>C
ENST00000682531.1:n.644A>C
ENST00000682626.1:c.*49A>C	ENSP00000507857.1:n.*49A>C
ENST00000682996.1:c.543A>C	ENSP00000507792.1:p.Glu181Asp
ENST00000683265.1:n.636A>C
ENST00000683371.1:c.*673A>C	ENSP00000508376.1:n.*673A>C
ENST00000683390.1:n.2233A>C
ENST00000683549.1:n.464A>C
ENST00000683936.1:c.*428A>C	ENSP00000507721.1:n.*428A>C
ENST00000683974.1:n.625A>C
ENST00000683996.1:c.132A>C	ENSP00000507060.1:p.Glu44Asp
ENST00000684131.1:n.382A>C
ENST00000684160.1:c.*233A>C	ENSP00000507821.1:n.*233A>C
ENST00000684214.1:c.543A>C	ENSP00000508071.1:p.Glu181Asp
ENST00000414835.7:c.618A>C	ENSP00000411960.3:p.Glu206Asp
ENST00000510025.7:c.543A>C MANE Select	ENSP00000424940.3:p.Glu181Asp
ENST00000643250.1:c.*415A>C	ENSP00000494737.1:n.*415A>C
ENST00000644146.1:c.*121A>C	ENSP00000494808.1:n.*121A>C
ENST00000645099.1:c.102A>C	ENSP00000496091.1:p.Glu34Asp
ENST00000645702.1:c.132A>C	ENSP00000496432.1:p.Glu44Asp
ENST00000645832.1:c.*428A>C	ENSP00000494316.1:n.*428A>C
ENST00000646058.1:c.543A>C	ENSP00000493579.1:p.Glu181Asp
ENST00000646355.1:c.*549A>C	ENSP00000493801.1:n.*549A>C
ENST00000646554.1:c.*521A>C	ENSP00000494542.1:n.*521A>C
ENST00000647335.1:c.*510A>C	ENSP00000495180.1:n.*510A>C
ENST00000647342.1:c.*474A>C	ENSP00000494992.1:n.*474A>C
ENST00000256216.10:c.543A>C	ENSP00000256216.6:p.Glu181Asp
ENST00000414835.6:c.123A>C	ENSP00000411960.2:p.Glu41Asp
ENST00000442060.7:c.543A>C	ENSP00000390208.3:p.Glu181Asp
ENST00000503168.5:n.532A>C
ENST00000504811.5:c.618A>C	ENSP00000420914.1:p.Glu206Asp
ENST00000505181.5:n.246A>C
ENST00000508788.5:n.445A>C
ENST00000509514.5:c.-342A>C	ENSP00000426272.1:n.-342A>C
ENST00000510025.5:c.471A>C	ENSP00000424940.1:p.Glu157Asp
ENST00000512644.1:n.111A>C
ENST00000513628.5:c.132A>C	ENSP00000425993.1:p.Glu44Asp
ENST00000515235.6:n.603A>C
ENST00000515320.5:c.489A>C	ENSP00000424613.1:p.Glu163Asp
NM_000414.3:c.543A>C	NP_000405.1:p.Glu181Asp
NM_001199291.2:c.618A>C	NP_001186220.1:p.Glu206Asp
NM_001199292.1:c.489A>C	NP_001186221.1:p.Glu163Asp
NM_001292027.1:c.471A>C	NP_001278956.1:p.Glu157Asp
NM_001292028.1:c.123A>C	NP_001278957.1:p.Glu41Asp
NM_000414.4:c.543A>C MANE Select	NP_000405.1:p.Glu181Asp
NM_001199291.3:c.618A>C	NP_001186220.1:p.Glu206Asp
NM_001199292.2:c.489A>C	NP_001186221.1:p.Glu163Asp
NM_001292027.2:c.471A>C	NP_001278956.1:p.Glu157Asp
NM_001292028.2:c.123A>C	NP_001278957.1:p.Glu41Asp
NM_001374497.1:c.534A>C	NP_001361426.1:p.Glu178Asp
NM_001374498.1:c.543A>C	NP_001361427.1:p.Glu181Asp
NM_001374499.1:c.216A>C	NP_001361428.1:p.Glu72Asp
NM_001374500.1:c.102A>C	NP_001361429.1:p.Glu34Asp
NM_001374501.1:c.132A>C	NP_001361430.1:p.Glu44Asp
NM_001374502.1:c.132A>C	NP_001361431.1:p.Glu44Asp
NM_001374503.1:c.132A>C	NP_001361432.1:p.Glu44Asp
NR_164653.1:n.622A>C
NR_164654.1:n.810A>C