Canonical Allele Identifier: CA360866390

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814684G>C (hg19) ; chr5:g.119478989G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478989G>C , CM000667.2:g.119478989G>C	GRCh38
NC_000005.9:g.118814684G>C , CM000667.1:g.118814684G>C	GRCh37
NC_000005.8:g.118842583G>C	NCBI36
NG_008182.1:g.31537G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.590G>C	ENSP00000426272.2:p.Gly197Ala
ENST00000518349.6:c.113-17554G>C	ENSP00000507185.1:n.113-17554G>C
ENST00000682445.1:c.*471G>C	ENSP00000508061.1:n.*471G>C
ENST00000682531.1:n.691G>C
ENST00000682626.1:c.*96G>C	ENSP00000507857.1:n.*96G>C
ENST00000682996.1:c.590G>C	ENSP00000507792.1:p.Gly197Ala
ENST00000683265.1:n.683G>C
ENST00000683371.1:c.*720G>C	ENSP00000508376.1:n.*720G>C
ENST00000683390.1:n.2280G>C
ENST00000683549.1:n.511G>C
ENST00000683936.1:c.*475G>C	ENSP00000507721.1:n.*475G>C
ENST00000683974.1:n.672G>C
ENST00000683996.1:c.179G>C	ENSP00000507060.1:p.Gly60Ala
ENST00000684131.1:n.429G>C
ENST00000684160.1:c.*280G>C	ENSP00000507821.1:n.*280G>C
ENST00000684214.1:c.590G>C	ENSP00000508071.1:p.Gly197Ala
ENST00000414835.7:c.665G>C	ENSP00000411960.3:p.Gly222Ala
ENST00000510025.7:c.590G>C MANE Select	ENSP00000424940.3:p.Gly197Ala
ENST00000643250.1:c.*462G>C	ENSP00000494737.1:n.*462G>C
ENST00000644146.1:c.*168G>C	ENSP00000494808.1:n.*168G>C
ENST00000645099.1:c.149G>C	ENSP00000496091.1:p.Gly50Ala
ENST00000645702.1:c.179G>C	ENSP00000496432.1:p.Gly60Ala
ENST00000645832.1:c.*475G>C	ENSP00000494316.1:n.*475G>C
ENST00000646058.1:c.590G>C	ENSP00000493579.1:p.Gly197Ala
ENST00000646355.1:c.*596G>C	ENSP00000493801.1:n.*596G>C
ENST00000646554.1:c.*568G>C	ENSP00000494542.1:n.*568G>C
ENST00000647335.1:c.*557G>C	ENSP00000495180.1:n.*557G>C
ENST00000647342.1:c.*521G>C	ENSP00000494992.1:n.*521G>C
ENST00000256216.10:c.590G>C	ENSP00000256216.6:p.Gly197Ala
ENST00000414835.6:c.170G>C	ENSP00000411960.2:p.Gly57Ala
ENST00000442060.7:c.590G>C	ENSP00000390208.3:p.Gly197Ala
ENST00000503168.5:n.579G>C
ENST00000504811.5:c.665G>C	ENSP00000420914.1:p.Gly222Ala
ENST00000505181.5:n.293G>C
ENST00000509514.5:c.-295G>C	ENSP00000426272.1:n.-295G>C
ENST00000510025.5:c.518G>C	ENSP00000424940.1:p.Gly173Ala
ENST00000512644.1:n.158G>C
ENST00000513628.5:c.179G>C	ENSP00000425993.1:p.Gly60Ala
ENST00000515235.6:n.650G>C
ENST00000515320.5:c.536G>C	ENSP00000424613.1:p.Gly179Ala
NM_000414.3:c.590G>C	NP_000405.1:p.Gly197Ala
NM_001199291.2:c.665G>C	NP_001186220.1:p.Gly222Ala
NM_001199292.1:c.536G>C	NP_001186221.1:p.Gly179Ala
NM_001292027.1:c.518G>C	NP_001278956.1:p.Gly173Ala
NM_001292028.1:c.170G>C	NP_001278957.1:p.Gly57Ala
NM_000414.4:c.590G>C MANE Select	NP_000405.1:p.Gly197Ala
NM_001199291.3:c.665G>C	NP_001186220.1:p.Gly222Ala
NM_001199292.2:c.536G>C	NP_001186221.1:p.Gly179Ala
NM_001292027.2:c.518G>C	NP_001278956.1:p.Gly173Ala
NM_001292028.2:c.170G>C	NP_001278957.1:p.Gly57Ala
NM_001374497.1:c.581G>C	NP_001361426.1:p.Gly194Ala
NM_001374498.1:c.590G>C	NP_001361427.1:p.Gly197Ala
NM_001374499.1:c.263G>C	NP_001361428.1:p.Gly88Ala
NM_001374500.1:c.149G>C	NP_001361429.1:p.Gly50Ala
NM_001374501.1:c.179G>C	NP_001361430.1:p.Gly60Ala
NM_001374502.1:c.179G>C	NP_001361431.1:p.Gly60Ala
NM_001374503.1:c.179G>C	NP_001361432.1:p.Gly60Ala
NR_164653.1:n.669G>C
NR_164654.1:n.857G>C