Canonical Allele Identifier: CA446041495

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1748853853
• MyVariant Identifiers: chr5:g.118814616T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478921T>G , CM000667.2:g.119478921T>G	GRCh38
NC_000005.9:g.118814616T>G , CM000667.1:g.118814616T>G	GRCh37
NC_000005.8:g.118842515T>G	NCBI36
NG_008182.1:g.31469T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.522T>G	ENSP00000426272.2:p.Leu174=
ENST00000518349.6:c.113-17622T>G	ENSP00000507185.1:n.113-17622T>G
ENST00000682445.1:c.*403T>G	ENSP00000508061.1:n.*403T>G
ENST00000682531.1:n.623T>G
ENST00000682626.1:c.*28T>G	ENSP00000507857.1:n.*28T>G
ENST00000682996.1:c.522T>G	ENSP00000507792.1:p.Leu174=
ENST00000683265.1:n.615T>G
ENST00000683371.1:c.*652T>G	ENSP00000508376.1:n.*652T>G
ENST00000683390.1:n.2212T>G
ENST00000683549.1:n.443T>G
ENST00000683936.1:c.*407T>G	ENSP00000507721.1:n.*407T>G
ENST00000683974.1:n.604T>G
ENST00000683996.1:c.111T>G	ENSP00000507060.1:p.Leu37=
ENST00000684131.1:n.361T>G
ENST00000684160.1:c.*212T>G	ENSP00000507821.1:n.*212T>G
ENST00000684214.1:c.522T>G	ENSP00000508071.1:p.Leu174=
ENST00000414835.7:c.597T>G	ENSP00000411960.3:p.Leu199=
ENST00000510025.7:c.522T>G MANE Select	ENSP00000424940.3:p.Leu174=
ENST00000643250.1:c.*394T>G	ENSP00000494737.1:n.*394T>G
ENST00000644146.1:c.*100T>G	ENSP00000494808.1:n.*100T>G
ENST00000645099.1:c.81T>G	ENSP00000496091.1:p.Leu27=
ENST00000645702.1:c.111T>G	ENSP00000496432.1:p.Leu37=
ENST00000645832.1:c.*407T>G	ENSP00000494316.1:n.*407T>G
ENST00000646058.1:c.522T>G	ENSP00000493579.1:p.Leu174=
ENST00000646355.1:c.*528T>G	ENSP00000493801.1:n.*528T>G
ENST00000646554.1:c.*500T>G	ENSP00000494542.1:n.*500T>G
ENST00000647335.1:c.*489T>G	ENSP00000495180.1:n.*489T>G
ENST00000647342.1:c.*453T>G	ENSP00000494992.1:n.*453T>G
ENST00000256216.10:c.522T>G	ENSP00000256216.6:p.Leu174=
ENST00000414835.6:c.102T>G	ENSP00000411960.2:p.Leu34=
ENST00000442060.7:c.522T>G	ENSP00000390208.3:p.Leu174=
ENST00000503168.5:n.511T>G
ENST00000504811.5:c.597T>G	ENSP00000420914.1:p.Leu199=
ENST00000505181.5:n.225T>G
ENST00000508788.5:n.424T>G
ENST00000509514.5:c.-363T>G	ENSP00000426272.1:n.-363T>G
ENST00000510025.5:c.450T>G	ENSP00000424940.1:p.Leu150=
ENST00000512644.1:n.90T>G
ENST00000512841.5:n.570T>G
ENST00000513628.5:c.111T>G	ENSP00000425993.1:p.Leu37=
ENST00000515235.6:n.582T>G
ENST00000515320.5:c.468T>G	ENSP00000424613.1:p.Leu156=
NM_000414.3:c.522T>G	NP_000405.1:p.Leu174=
NM_001199291.2:c.597T>G	NP_001186220.1:p.Leu199=
NM_001199292.1:c.468T>G	NP_001186221.1:p.Leu156=
NM_001292027.1:c.450T>G	NP_001278956.1:p.Leu150=
NM_001292028.1:c.102T>G	NP_001278957.1:p.Leu34=
NM_000414.4:c.522T>G MANE Select	NP_000405.1:p.Leu174=
NM_001199291.3:c.597T>G	NP_001186220.1:p.Leu199=
NM_001199292.2:c.468T>G	NP_001186221.1:p.Leu156=
NM_001292027.2:c.450T>G	NP_001278956.1:p.Leu150=
NM_001292028.2:c.102T>G	NP_001278957.1:p.Leu34=
NM_001374497.1:c.513T>G	NP_001361426.1:p.Leu171=
NM_001374498.1:c.522T>G	NP_001361427.1:p.Leu174=
NM_001374499.1:c.195T>G	NP_001361428.1:p.Leu65=
NM_001374500.1:c.81T>G	NP_001361429.1:p.Leu27=
NM_001374501.1:c.111T>G	NP_001361430.1:p.Leu37=
NM_001374502.1:c.111T>G	NP_001361431.1:p.Leu37=
NM_001374503.1:c.111T>G	NP_001361432.1:p.Leu37=
NR_164653.1:n.601T>G
NR_164654.1:n.789T>G