Canonical Allele Identifier: CA360866389

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814683G>T (hg19) ; chr5:g.119478988G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478988G>T , CM000667.2:g.119478988G>T	GRCh38
NC_000005.9:g.118814683G>T , CM000667.1:g.118814683G>T	GRCh37
NC_000005.8:g.118842582G>T	NCBI36
NG_008182.1:g.31536G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.589G>T	ENSP00000426272.2:p.Gly197Ter
ENST00000518349.6:c.113-17555G>T	ENSP00000507185.1:n.113-17555G>T
ENST00000682445.1:c.*470G>T	ENSP00000508061.1:n.*470G>T
ENST00000682531.1:n.690G>T
ENST00000682626.1:c.*95G>T	ENSP00000507857.1:n.*95G>T
ENST00000682996.1:c.589G>T	ENSP00000507792.1:p.Gly197Ter
ENST00000683265.1:n.682G>T
ENST00000683371.1:c.*719G>T	ENSP00000508376.1:n.*719G>T
ENST00000683390.1:n.2279G>T
ENST00000683549.1:n.510G>T
ENST00000683936.1:c.*474G>T	ENSP00000507721.1:n.*474G>T
ENST00000683974.1:n.671G>T
ENST00000683996.1:c.178G>T	ENSP00000507060.1:p.Gly60Ter
ENST00000684131.1:n.428G>T
ENST00000684160.1:c.*279G>T	ENSP00000507821.1:n.*279G>T
ENST00000684214.1:c.589G>T	ENSP00000508071.1:p.Gly197Ter
ENST00000414835.7:c.664G>T	ENSP00000411960.3:p.Gly222Ter
ENST00000510025.7:c.589G>T MANE Select	ENSP00000424940.3:p.Gly197Ter
ENST00000643250.1:c.*461G>T	ENSP00000494737.1:n.*461G>T
ENST00000644146.1:c.*167G>T	ENSP00000494808.1:n.*167G>T
ENST00000645099.1:c.148G>T	ENSP00000496091.1:p.Gly50Ter
ENST00000645702.1:c.178G>T	ENSP00000496432.1:p.Gly60Ter
ENST00000645832.1:c.*474G>T	ENSP00000494316.1:n.*474G>T
ENST00000646058.1:c.589G>T	ENSP00000493579.1:p.Gly197Ter
ENST00000646355.1:c.*595G>T	ENSP00000493801.1:n.*595G>T
ENST00000646554.1:c.*567G>T	ENSP00000494542.1:n.*567G>T
ENST00000647335.1:c.*556G>T	ENSP00000495180.1:n.*556G>T
ENST00000647342.1:c.*520G>T	ENSP00000494992.1:n.*520G>T
ENST00000256216.10:c.589G>T	ENSP00000256216.6:p.Gly197Ter
ENST00000414835.6:c.169G>T	ENSP00000411960.2:p.Gly57Ter
ENST00000442060.7:c.589G>T	ENSP00000390208.3:p.Gly197Ter
ENST00000503168.5:n.578G>T
ENST00000504811.5:c.664G>T	ENSP00000420914.1:p.Gly222Ter
ENST00000505181.5:n.292G>T
ENST00000509514.5:c.-296G>T	ENSP00000426272.1:n.-296G>T
ENST00000510025.5:c.517G>T	ENSP00000424940.1:p.Gly173Ter
ENST00000512644.1:n.157G>T
ENST00000513628.5:c.178G>T	ENSP00000425993.1:p.Gly60Ter
ENST00000515235.6:n.649G>T
ENST00000515320.5:c.535G>T	ENSP00000424613.1:p.Gly179Ter
NM_000414.3:c.589G>T	NP_000405.1:p.Gly197Ter
NM_001199291.2:c.664G>T	NP_001186220.1:p.Gly222Ter
NM_001199292.1:c.535G>T	NP_001186221.1:p.Gly179Ter
NM_001292027.1:c.517G>T	NP_001278956.1:p.Gly173Ter
NM_001292028.1:c.169G>T	NP_001278957.1:p.Gly57Ter
NM_000414.4:c.589G>T MANE Select	NP_000405.1:p.Gly197Ter
NM_001199291.3:c.664G>T	NP_001186220.1:p.Gly222Ter
NM_001199292.2:c.535G>T	NP_001186221.1:p.Gly179Ter
NM_001292027.2:c.517G>T	NP_001278956.1:p.Gly173Ter
NM_001292028.2:c.169G>T	NP_001278957.1:p.Gly57Ter
NM_001374497.1:c.580G>T	NP_001361426.1:p.Gly194Ter
NM_001374498.1:c.589G>T	NP_001361427.1:p.Gly197Ter
NM_001374499.1:c.262G>T	NP_001361428.1:p.Gly88Ter
NM_001374500.1:c.148G>T	NP_001361429.1:p.Gly50Ter
NM_001374501.1:c.178G>T	NP_001361430.1:p.Gly60Ter
NM_001374502.1:c.178G>T	NP_001361431.1:p.Gly60Ter
NM_001374503.1:c.178G>T	NP_001361432.1:p.Gly60Ter
NR_164653.1:n.668G>T
NR_164654.1:n.856G>T