Canonical Allele Identifier: CA360866303

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119478948-G-T
• MyVariant Identifiers: chr5:g.118814643G>T (hg19) ; chr5:g.119478948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478948G>T , CM000667.2:g.119478948G>T	GRCh38
NC_000005.9:g.118814643G>T , CM000667.1:g.118814643G>T	GRCh37
NC_000005.8:g.118842542G>T	NCBI36
NG_008182.1:g.31496G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.549G>T	ENSP00000426272.2:p.Arg183Ser
ENST00000518349.6:c.113-17595G>T	ENSP00000507185.1:n.113-17595G>T
ENST00000682445.1:c.*430G>T	ENSP00000508061.1:n.*430G>T
ENST00000682531.1:n.650G>T
ENST00000682626.1:c.*55G>T	ENSP00000507857.1:n.*55G>T
ENST00000682996.1:c.549G>T	ENSP00000507792.1:p.Arg183Ser
ENST00000683265.1:n.642G>T
ENST00000683371.1:c.*679G>T	ENSP00000508376.1:n.*679G>T
ENST00000683390.1:n.2239G>T
ENST00000683549.1:n.470G>T
ENST00000683936.1:c.*434G>T	ENSP00000507721.1:n.*434G>T
ENST00000683974.1:n.631G>T
ENST00000683996.1:c.138G>T	ENSP00000507060.1:p.Arg46Ser
ENST00000684131.1:n.388G>T
ENST00000684160.1:c.*239G>T	ENSP00000507821.1:n.*239G>T
ENST00000684214.1:c.549G>T	ENSP00000508071.1:p.Arg183Ser
ENST00000414835.7:c.624G>T	ENSP00000411960.3:p.Arg208Ser
ENST00000510025.7:c.549G>T MANE Select	ENSP00000424940.3:p.Arg183Ser
ENST00000643250.1:c.*421G>T	ENSP00000494737.1:n.*421G>T
ENST00000644146.1:c.*127G>T	ENSP00000494808.1:n.*127G>T
ENST00000645099.1:c.108G>T	ENSP00000496091.1:p.Arg36Ser
ENST00000645702.1:c.138G>T	ENSP00000496432.1:p.Arg46Ser
ENST00000645832.1:c.*434G>T	ENSP00000494316.1:n.*434G>T
ENST00000646058.1:c.549G>T	ENSP00000493579.1:p.Arg183Ser
ENST00000646355.1:c.*555G>T	ENSP00000493801.1:n.*555G>T
ENST00000646554.1:c.*527G>T	ENSP00000494542.1:n.*527G>T
ENST00000647335.1:c.*516G>T	ENSP00000495180.1:n.*516G>T
ENST00000647342.1:c.*480G>T	ENSP00000494992.1:n.*480G>T
ENST00000256216.10:c.549G>T	ENSP00000256216.6:p.Arg183Ser
ENST00000414835.6:c.129G>T	ENSP00000411960.2:p.Arg43Ser
ENST00000442060.7:c.549G>T	ENSP00000390208.3:p.Arg183Ser
ENST00000503168.5:n.538G>T
ENST00000504811.5:c.624G>T	ENSP00000420914.1:p.Arg208Ser
ENST00000505181.5:n.252G>T
ENST00000509514.5:c.-336G>T	ENSP00000426272.1:n.-336G>T
ENST00000510025.5:c.477G>T	ENSP00000424940.1:p.Arg159Ser
ENST00000512644.1:n.117G>T
ENST00000513628.5:c.138G>T	ENSP00000425993.1:p.Arg46Ser
ENST00000515235.6:n.609G>T
ENST00000515320.5:c.495G>T	ENSP00000424613.1:p.Arg165Ser
NM_000414.3:c.549G>T	NP_000405.1:p.Arg183Ser
NM_001199291.2:c.624G>T	NP_001186220.1:p.Arg208Ser
NM_001199292.1:c.495G>T	NP_001186221.1:p.Arg165Ser
NM_001292027.1:c.477G>T	NP_001278956.1:p.Arg159Ser
NM_001292028.1:c.129G>T	NP_001278957.1:p.Arg43Ser
NM_000414.4:c.549G>T MANE Select	NP_000405.1:p.Arg183Ser
NM_001199291.3:c.624G>T	NP_001186220.1:p.Arg208Ser
NM_001199292.2:c.495G>T	NP_001186221.1:p.Arg165Ser
NM_001292027.2:c.477G>T	NP_001278956.1:p.Arg159Ser
NM_001292028.2:c.129G>T	NP_001278957.1:p.Arg43Ser
NM_001374497.1:c.540G>T	NP_001361426.1:p.Arg180Ser
NM_001374498.1:c.549G>T	NP_001361427.1:p.Arg183Ser
NM_001374499.1:c.222G>T	NP_001361428.1:p.Arg74Ser
NM_001374500.1:c.108G>T	NP_001361429.1:p.Arg36Ser
NM_001374501.1:c.138G>T	NP_001361430.1:p.Arg46Ser
NM_001374502.1:c.138G>T	NP_001361431.1:p.Arg46Ser
NM_001374503.1:c.138G>T	NP_001361432.1:p.Arg46Ser
NR_164653.1:n.628G>T
NR_164654.1:n.816G>T