Canonical Allele Identifier: CA360866378

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814678A>C (hg19) ; chr5:g.119478983A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478983A>C , CM000667.2:g.119478983A>C	GRCh38
NC_000005.9:g.118814678A>C , CM000667.1:g.118814678A>C	GRCh37
NC_000005.8:g.118842577A>C	NCBI36
NG_008182.1:g.31531A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.584A>C	ENSP00000426272.2:p.Asn195Thr
ENST00000518349.6:c.113-17560A>C	ENSP00000507185.1:n.113-17560A>C
ENST00000682445.1:c.*465A>C	ENSP00000508061.1:n.*465A>C
ENST00000682531.1:n.685A>C
ENST00000682626.1:c.*90A>C	ENSP00000507857.1:n.*90A>C
ENST00000682996.1:c.584A>C	ENSP00000507792.1:p.Asn195Thr
ENST00000683265.1:n.677A>C
ENST00000683371.1:c.*714A>C	ENSP00000508376.1:n.*714A>C
ENST00000683390.1:n.2274A>C
ENST00000683549.1:n.505A>C
ENST00000683936.1:c.*469A>C	ENSP00000507721.1:n.*469A>C
ENST00000683974.1:n.666A>C
ENST00000683996.1:c.173A>C	ENSP00000507060.1:p.Asn58Thr
ENST00000684131.1:n.423A>C
ENST00000684160.1:c.*274A>C	ENSP00000507821.1:n.*274A>C
ENST00000684214.1:c.584A>C	ENSP00000508071.1:p.Asn195Thr
ENST00000414835.7:c.659A>C	ENSP00000411960.3:p.Asn220Thr
ENST00000510025.7:c.584A>C MANE Select	ENSP00000424940.3:p.Asn195Thr
ENST00000643250.1:c.*456A>C	ENSP00000494737.1:n.*456A>C
ENST00000644146.1:c.*162A>C	ENSP00000494808.1:n.*162A>C
ENST00000645099.1:c.143A>C	ENSP00000496091.1:p.Asn48Thr
ENST00000645702.1:c.173A>C	ENSP00000496432.1:p.Asn58Thr
ENST00000645832.1:c.*469A>C	ENSP00000494316.1:n.*469A>C
ENST00000646058.1:c.584A>C	ENSP00000493579.1:p.Asn195Thr
ENST00000646355.1:c.*590A>C	ENSP00000493801.1:n.*590A>C
ENST00000646554.1:c.*562A>C	ENSP00000494542.1:n.*562A>C
ENST00000647335.1:c.*551A>C	ENSP00000495180.1:n.*551A>C
ENST00000647342.1:c.*515A>C	ENSP00000494992.1:n.*515A>C
ENST00000256216.10:c.584A>C	ENSP00000256216.6:p.Asn195Thr
ENST00000414835.6:c.164A>C	ENSP00000411960.2:p.Asn55Thr
ENST00000442060.7:c.584A>C	ENSP00000390208.3:p.Asn195Thr
ENST00000503168.5:n.573A>C
ENST00000504811.5:c.659A>C	ENSP00000420914.1:p.Asn220Thr
ENST00000505181.5:n.287A>C
ENST00000509514.5:c.-301A>C	ENSP00000426272.1:n.-301A>C
ENST00000510025.5:c.512A>C	ENSP00000424940.1:p.Asn171Thr
ENST00000512644.1:n.152A>C
ENST00000513628.5:c.173A>C	ENSP00000425993.1:p.Asn58Thr
ENST00000515235.6:n.644A>C
ENST00000515320.5:c.530A>C	ENSP00000424613.1:p.Asn177Thr
NM_000414.3:c.584A>C	NP_000405.1:p.Asn195Thr
NM_001199291.2:c.659A>C	NP_001186220.1:p.Asn220Thr
NM_001199292.1:c.530A>C	NP_001186221.1:p.Asn177Thr
NM_001292027.1:c.512A>C	NP_001278956.1:p.Asn171Thr
NM_001292028.1:c.164A>C	NP_001278957.1:p.Asn55Thr
NM_000414.4:c.584A>C MANE Select	NP_000405.1:p.Asn195Thr
NM_001199291.3:c.659A>C	NP_001186220.1:p.Asn220Thr
NM_001199292.2:c.530A>C	NP_001186221.1:p.Asn177Thr
NM_001292027.2:c.512A>C	NP_001278956.1:p.Asn171Thr
NM_001292028.2:c.164A>C	NP_001278957.1:p.Asn55Thr
NM_001374497.1:c.575A>C	NP_001361426.1:p.Asn192Thr
NM_001374498.1:c.584A>C	NP_001361427.1:p.Asn195Thr
NM_001374499.1:c.257A>C	NP_001361428.1:p.Asn86Thr
NM_001374500.1:c.143A>C	NP_001361429.1:p.Asn48Thr
NM_001374501.1:c.173A>C	NP_001361430.1:p.Asn58Thr
NM_001374502.1:c.173A>C	NP_001361431.1:p.Asn58Thr
NM_001374503.1:c.173A>C	NP_001361432.1:p.Asn58Thr
NR_164653.1:n.663A>C
NR_164654.1:n.851A>C