Canonical Allele Identifier: CA360866408

Gene: HSD17B4

Linked Data

• dbSNP Id: rs776060692
• MyVariant Identifiers: chr5:g.118814694G>A (hg19) ; chr5:g.119478999G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478999G>A , CM000667.2:g.119478999G>A	GRCh38
NC_000005.9:g.118814694G>A , CM000667.1:g.118814694G>A	GRCh37
NC_000005.8:g.118842593G>A	NCBI36
NG_008182.1:g.31547G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.600G>A	ENSP00000426272.2:p.Met200Ile
ENST00000518349.6:c.113-17544G>A	ENSP00000507185.1:n.113-17544G>A
ENST00000682445.1:c.*481G>A	ENSP00000508061.1:n.*481G>A
ENST00000682531.1:n.701G>A
ENST00000682626.1:c.*106G>A	ENSP00000507857.1:n.*106G>A
ENST00000682996.1:c.600G>A	ENSP00000507792.1:p.Met200Ile
ENST00000683265.1:n.693G>A
ENST00000683371.1:c.*730G>A	ENSP00000508376.1:n.*730G>A
ENST00000683390.1:n.2290G>A
ENST00000683549.1:n.521G>A
ENST00000683936.1:c.*485G>A	ENSP00000507721.1:n.*485G>A
ENST00000683974.1:n.682G>A
ENST00000683996.1:c.189G>A	ENSP00000507060.1:p.Met63Ile
ENST00000684131.1:n.439G>A
ENST00000684160.1:c.*290G>A	ENSP00000507821.1:n.*290G>A
ENST00000684214.1:c.600G>A	ENSP00000508071.1:p.Met200Ile
ENST00000414835.7:c.675G>A	ENSP00000411960.3:p.Met225Ile
ENST00000510025.7:c.600G>A MANE Select	ENSP00000424940.3:p.Met200Ile
ENST00000643250.1:c.*472G>A	ENSP00000494737.1:n.*472G>A
ENST00000644146.1:c.*178G>A	ENSP00000494808.1:n.*178G>A
ENST00000645099.1:c.159G>A	ENSP00000496091.1:p.Met53Ile
ENST00000645702.1:c.189G>A	ENSP00000496432.1:p.Met63Ile
ENST00000645832.1:c.*485G>A	ENSP00000494316.1:n.*485G>A
ENST00000646058.1:c.600G>A	ENSP00000493579.1:p.Met200Ile
ENST00000646355.1:c.*606G>A	ENSP00000493801.1:n.*606G>A
ENST00000646554.1:c.*578G>A	ENSP00000494542.1:n.*578G>A
ENST00000647335.1:c.*567G>A	ENSP00000495180.1:n.*567G>A
ENST00000647342.1:c.*531G>A	ENSP00000494992.1:n.*531G>A
ENST00000256216.10:c.600G>A	ENSP00000256216.6:p.Met200Ile
ENST00000414835.6:c.180G>A	ENSP00000411960.2:p.Met60Ile
ENST00000442060.7:c.600G>A	ENSP00000390208.3:p.Met200Ile
ENST00000503168.5:n.589G>A
ENST00000504811.5:c.675G>A	ENSP00000420914.1:p.Met225Ile
ENST00000505181.5:n.303G>A
ENST00000509514.5:c.-285G>A	ENSP00000426272.1:n.-285G>A
ENST00000510025.5:c.528G>A	ENSP00000424940.1:p.Met176Ile
ENST00000512644.1:n.168G>A
ENST00000513628.5:c.189G>A	ENSP00000425993.1:p.Met63Ile
ENST00000515235.6:n.660G>A
ENST00000515320.5:c.546G>A	ENSP00000424613.1:p.Met182Ile
NM_000414.3:c.600G>A	NP_000405.1:p.Met200Ile
NM_001199291.2:c.675G>A	NP_001186220.1:p.Met225Ile
NM_001199292.1:c.546G>A	NP_001186221.1:p.Met182Ile
NM_001292027.1:c.528G>A	NP_001278956.1:p.Met176Ile
NM_001292028.1:c.180G>A	NP_001278957.1:p.Met60Ile
NM_000414.4:c.600G>A MANE Select	NP_000405.1:p.Met200Ile
NM_001199291.3:c.675G>A	NP_001186220.1:p.Met225Ile
NM_001199292.2:c.546G>A	NP_001186221.1:p.Met182Ile
NM_001292027.2:c.528G>A	NP_001278956.1:p.Met176Ile
NM_001292028.2:c.180G>A	NP_001278957.1:p.Met60Ile
NM_001374497.1:c.591G>A	NP_001361426.1:p.Met197Ile
NM_001374498.1:c.600G>A	NP_001361427.1:p.Met200Ile
NM_001374499.1:c.273G>A	NP_001361428.1:p.Met91Ile
NM_001374500.1:c.159G>A	NP_001361429.1:p.Met53Ile
NM_001374501.1:c.189G>A	NP_001361430.1:p.Met63Ile
NM_001374502.1:c.189G>A	NP_001361431.1:p.Met63Ile
NM_001374503.1:c.189G>A	NP_001361432.1:p.Met63Ile
NR_164653.1:n.679G>A
NR_164654.1:n.867G>A