Canonical Allele Identifier: CA360866300

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814642G>C (hg19) ; chr5:g.119478947G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478947G>C , CM000667.2:g.119478947G>C	GRCh38
NC_000005.9:g.118814642G>C , CM000667.1:g.118814642G>C	GRCh37
NC_000005.8:g.118842541G>C	NCBI36
NG_008182.1:g.31495G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.548G>C	ENSP00000426272.2:p.Arg183Thr
ENST00000518349.6:c.113-17596G>C	ENSP00000507185.1:n.113-17596G>C
ENST00000682445.1:c.*429G>C	ENSP00000508061.1:n.*429G>C
ENST00000682531.1:n.649G>C
ENST00000682626.1:c.*54G>C	ENSP00000507857.1:n.*54G>C
ENST00000682996.1:c.548G>C	ENSP00000507792.1:p.Arg183Thr
ENST00000683265.1:n.641G>C
ENST00000683371.1:c.*678G>C	ENSP00000508376.1:n.*678G>C
ENST00000683390.1:n.2238G>C
ENST00000683549.1:n.469G>C
ENST00000683936.1:c.*433G>C	ENSP00000507721.1:n.*433G>C
ENST00000683974.1:n.630G>C
ENST00000683996.1:c.137G>C	ENSP00000507060.1:p.Arg46Thr
ENST00000684131.1:n.387G>C
ENST00000684160.1:c.*238G>C	ENSP00000507821.1:n.*238G>C
ENST00000684214.1:c.548G>C	ENSP00000508071.1:p.Arg183Thr
ENST00000414835.7:c.623G>C	ENSP00000411960.3:p.Arg208Thr
ENST00000510025.7:c.548G>C MANE Select	ENSP00000424940.3:p.Arg183Thr
ENST00000643250.1:c.*420G>C	ENSP00000494737.1:n.*420G>C
ENST00000644146.1:c.*126G>C	ENSP00000494808.1:n.*126G>C
ENST00000645099.1:c.107G>C	ENSP00000496091.1:p.Arg36Thr
ENST00000645702.1:c.137G>C	ENSP00000496432.1:p.Arg46Thr
ENST00000645832.1:c.*433G>C	ENSP00000494316.1:n.*433G>C
ENST00000646058.1:c.548G>C	ENSP00000493579.1:p.Arg183Thr
ENST00000646355.1:c.*554G>C	ENSP00000493801.1:n.*554G>C
ENST00000646554.1:c.*526G>C	ENSP00000494542.1:n.*526G>C
ENST00000647335.1:c.*515G>C	ENSP00000495180.1:n.*515G>C
ENST00000647342.1:c.*479G>C	ENSP00000494992.1:n.*479G>C
ENST00000256216.10:c.548G>C	ENSP00000256216.6:p.Arg183Thr
ENST00000414835.6:c.128G>C	ENSP00000411960.2:p.Arg43Thr
ENST00000442060.7:c.548G>C	ENSP00000390208.3:p.Arg183Thr
ENST00000503168.5:n.537G>C
ENST00000504811.5:c.623G>C	ENSP00000420914.1:p.Arg208Thr
ENST00000505181.5:n.251G>C
ENST00000509514.5:c.-337G>C	ENSP00000426272.1:n.-337G>C
ENST00000510025.5:c.476G>C	ENSP00000424940.1:p.Arg159Thr
ENST00000512644.1:n.116G>C
ENST00000513628.5:c.137G>C	ENSP00000425993.1:p.Arg46Thr
ENST00000515235.6:n.608G>C
ENST00000515320.5:c.494G>C	ENSP00000424613.1:p.Arg165Thr
NM_000414.3:c.548G>C	NP_000405.1:p.Arg183Thr
NM_001199291.2:c.623G>C	NP_001186220.1:p.Arg208Thr
NM_001199292.1:c.494G>C	NP_001186221.1:p.Arg165Thr
NM_001292027.1:c.476G>C	NP_001278956.1:p.Arg159Thr
NM_001292028.1:c.128G>C	NP_001278957.1:p.Arg43Thr
NM_000414.4:c.548G>C MANE Select	NP_000405.1:p.Arg183Thr
NM_001199291.3:c.623G>C	NP_001186220.1:p.Arg208Thr
NM_001199292.2:c.494G>C	NP_001186221.1:p.Arg165Thr
NM_001292027.2:c.476G>C	NP_001278956.1:p.Arg159Thr
NM_001292028.2:c.128G>C	NP_001278957.1:p.Arg43Thr
NM_001374497.1:c.539G>C	NP_001361426.1:p.Arg180Thr
NM_001374498.1:c.548G>C	NP_001361427.1:p.Arg183Thr
NM_001374499.1:c.221G>C	NP_001361428.1:p.Arg74Thr
NM_001374500.1:c.107G>C	NP_001361429.1:p.Arg36Thr
NM_001374501.1:c.137G>C	NP_001361430.1:p.Arg46Thr
NM_001374502.1:c.137G>C	NP_001361431.1:p.Arg46Thr
NM_001374503.1:c.137G>C	NP_001361432.1:p.Arg46Thr
NR_164653.1:n.627G>C
NR_164654.1:n.815G>C