Canonical Allele Identifier: CA360866237

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814611G>C (hg19) ; chr5:g.119478916G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478916G>C , CM000667.2:g.119478916G>C	GRCh38
NC_000005.9:g.118814611G>C , CM000667.1:g.118814611G>C	GRCh37
NC_000005.8:g.118842510G>C	NCBI36
NG_008182.1:g.31464G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.517G>C	ENSP00000426272.2:p.Gly173Arg
ENST00000518349.6:c.113-17627G>C	ENSP00000507185.1:n.113-17627G>C
ENST00000682445.1:c.*398G>C	ENSP00000508061.1:n.*398G>C
ENST00000682531.1:n.618G>C
ENST00000682626.1:c.*23G>C	ENSP00000507857.1:n.*23G>C
ENST00000682996.1:c.517G>C	ENSP00000507792.1:p.Gly173Arg
ENST00000683265.1:n.610G>C
ENST00000683371.1:c.*647G>C	ENSP00000508376.1:n.*647G>C
ENST00000683390.1:n.2207G>C
ENST00000683549.1:n.438G>C
ENST00000683936.1:c.*402G>C	ENSP00000507721.1:n.*402G>C
ENST00000683974.1:n.599G>C
ENST00000683996.1:c.106G>C	ENSP00000507060.1:p.Gly36Arg
ENST00000684131.1:n.356G>C
ENST00000684160.1:c.*207G>C	ENSP00000507821.1:n.*207G>C
ENST00000684214.1:c.517G>C	ENSP00000508071.1:p.Gly173Arg
ENST00000414835.7:c.592G>C	ENSP00000411960.3:p.Gly198Arg
ENST00000510025.7:c.517G>C MANE Select	ENSP00000424940.3:p.Gly173Arg
ENST00000643250.1:c.*389G>C	ENSP00000494737.1:n.*389G>C
ENST00000644146.1:c.*95G>C	ENSP00000494808.1:n.*95G>C
ENST00000645099.1:c.76G>C	ENSP00000496091.1:p.Gly26Arg
ENST00000645702.1:c.106G>C	ENSP00000496432.1:p.Gly36Arg
ENST00000645832.1:c.*402G>C	ENSP00000494316.1:n.*402G>C
ENST00000646058.1:c.517G>C	ENSP00000493579.1:p.Gly173Arg
ENST00000646355.1:c.*523G>C	ENSP00000493801.1:n.*523G>C
ENST00000646554.1:c.*495G>C	ENSP00000494542.1:n.*495G>C
ENST00000647335.1:c.*484G>C	ENSP00000495180.1:n.*484G>C
ENST00000647342.1:c.*448G>C	ENSP00000494992.1:n.*448G>C
ENST00000256216.10:c.517G>C	ENSP00000256216.6:p.Gly173Arg
ENST00000414835.6:c.97G>C	ENSP00000411960.2:p.Gly33Arg
ENST00000442060.7:c.517G>C	ENSP00000390208.3:p.Gly173Arg
ENST00000503168.5:n.506G>C
ENST00000504811.5:c.592G>C	ENSP00000420914.1:p.Gly198Arg
ENST00000505181.5:n.220G>C
ENST00000508788.5:n.419G>C
ENST00000509514.5:c.-368G>C	ENSP00000426272.1:n.-368G>C
ENST00000510025.5:c.445G>C	ENSP00000424940.1:p.Gly149Arg
ENST00000512644.1:n.85G>C
ENST00000512841.5:n.565G>C
ENST00000513628.5:c.106G>C	ENSP00000425993.1:p.Gly36Arg
ENST00000515235.6:n.577G>C
ENST00000515320.5:c.463G>C	ENSP00000424613.1:p.Gly155Arg
NM_000414.3:c.517G>C	NP_000405.1:p.Gly173Arg
NM_001199291.2:c.592G>C	NP_001186220.1:p.Gly198Arg
NM_001199292.1:c.463G>C	NP_001186221.1:p.Gly155Arg
NM_001292027.1:c.445G>C	NP_001278956.1:p.Gly149Arg
NM_001292028.1:c.97G>C	NP_001278957.1:p.Gly33Arg
NM_000414.4:c.517G>C MANE Select	NP_000405.1:p.Gly173Arg
NM_001199291.3:c.592G>C	NP_001186220.1:p.Gly198Arg
NM_001199292.2:c.463G>C	NP_001186221.1:p.Gly155Arg
NM_001292027.2:c.445G>C	NP_001278956.1:p.Gly149Arg
NM_001292028.2:c.97G>C	NP_001278957.1:p.Gly33Arg
NM_001374497.1:c.508G>C	NP_001361426.1:p.Gly170Arg
NM_001374498.1:c.517G>C	NP_001361427.1:p.Gly173Arg
NM_001374499.1:c.190G>C	NP_001361428.1:p.Gly64Arg
NM_001374500.1:c.76G>C	NP_001361429.1:p.Gly26Arg
NM_001374501.1:c.106G>C	NP_001361430.1:p.Gly36Arg
NM_001374502.1:c.106G>C	NP_001361431.1:p.Gly36Arg
NM_001374503.1:c.106G>C	NP_001361432.1:p.Gly36Arg
NR_164653.1:n.596G>C
NR_164654.1:n.784G>C