Canonical Allele Identifier: CA125862120

Gene: HSD17B4

Linked Data

• dbSNP Id: rs897274090
• gnomAD v3: 5-119478976-G-A
• gnomAD v4: 5-119478976-G-A
• MyVariant Identifiers: chr5:g.118814671G>A (hg19) ; chr5:g.119478976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478976G>A , CM000667.2:g.119478976G>A	GRCh38
NC_000005.9:g.118814671G>A , CM000667.1:g.118814671G>A	GRCh37
NC_000005.8:g.118842570G>A	NCBI36
NG_008182.1:g.31524G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.577G>A	ENSP00000426272.2:p.Ala193Thr
ENST00000518349.6:c.113-17567G>A	ENSP00000507185.1:n.113-17567G>A
ENST00000682445.1:c.*458G>A	ENSP00000508061.1:n.*458G>A
ENST00000682531.1:n.678G>A
ENST00000682626.1:c.*83G>A	ENSP00000507857.1:n.*83G>A
ENST00000682996.1:c.577G>A	ENSP00000507792.1:p.Ala193Thr
ENST00000683265.1:n.670G>A
ENST00000683371.1:c.*707G>A	ENSP00000508376.1:n.*707G>A
ENST00000683390.1:n.2267G>A
ENST00000683549.1:n.498G>A
ENST00000683936.1:c.*462G>A	ENSP00000507721.1:n.*462G>A
ENST00000683974.1:n.659G>A
ENST00000683996.1:c.166G>A	ENSP00000507060.1:p.Ala56Thr
ENST00000684131.1:n.416G>A
ENST00000684160.1:c.*267G>A	ENSP00000507821.1:n.*267G>A
ENST00000684214.1:c.577G>A	ENSP00000508071.1:p.Ala193Thr
ENST00000414835.7:c.652G>A	ENSP00000411960.3:p.Ala218Thr
ENST00000510025.7:c.577G>A MANE Select	ENSP00000424940.3:p.Ala193Thr
ENST00000643250.1:c.*449G>A	ENSP00000494737.1:n.*449G>A
ENST00000644146.1:c.*155G>A	ENSP00000494808.1:n.*155G>A
ENST00000645099.1:c.136G>A	ENSP00000496091.1:p.Ala46Thr
ENST00000645702.1:c.166G>A	ENSP00000496432.1:p.Ala56Thr
ENST00000645832.1:c.*462G>A	ENSP00000494316.1:n.*462G>A
ENST00000646058.1:c.577G>A	ENSP00000493579.1:p.Ala193Thr
ENST00000646355.1:c.*583G>A	ENSP00000493801.1:n.*583G>A
ENST00000646554.1:c.*555G>A	ENSP00000494542.1:n.*555G>A
ENST00000647335.1:c.*544G>A	ENSP00000495180.1:n.*544G>A
ENST00000647342.1:c.*508G>A	ENSP00000494992.1:n.*508G>A
ENST00000256216.10:c.577G>A	ENSP00000256216.6:p.Ala193Thr
ENST00000414835.6:c.157G>A	ENSP00000411960.2:p.Ala53Thr
ENST00000442060.7:c.577G>A	ENSP00000390208.3:p.Ala193Thr
ENST00000503168.5:n.566G>A
ENST00000504811.5:c.652G>A	ENSP00000420914.1:p.Ala218Thr
ENST00000505181.5:n.280G>A
ENST00000509514.5:c.-308G>A	ENSP00000426272.1:n.-308G>A
ENST00000510025.5:c.505G>A	ENSP00000424940.1:p.Ala169Thr
ENST00000512644.1:n.145G>A
ENST00000513628.5:c.166G>A	ENSP00000425993.1:p.Ala56Thr
ENST00000515235.6:n.637G>A
ENST00000515320.5:c.523G>A	ENSP00000424613.1:p.Ala175Thr
NM_000414.3:c.577G>A	NP_000405.1:p.Ala193Thr
NM_001199291.2:c.652G>A	NP_001186220.1:p.Ala218Thr
NM_001199292.1:c.523G>A	NP_001186221.1:p.Ala175Thr
NM_001292027.1:c.505G>A	NP_001278956.1:p.Ala169Thr
NM_001292028.1:c.157G>A	NP_001278957.1:p.Ala53Thr
NM_000414.4:c.577G>A MANE Select	NP_000405.1:p.Ala193Thr
NM_001199291.3:c.652G>A	NP_001186220.1:p.Ala218Thr
NM_001199292.2:c.523G>A	NP_001186221.1:p.Ala175Thr
NM_001292027.2:c.505G>A	NP_001278956.1:p.Ala169Thr
NM_001292028.2:c.157G>A	NP_001278957.1:p.Ala53Thr
NM_001374497.1:c.568G>A	NP_001361426.1:p.Ala190Thr
NM_001374498.1:c.577G>A	NP_001361427.1:p.Ala193Thr
NM_001374499.1:c.250G>A	NP_001361428.1:p.Ala84Thr
NM_001374500.1:c.136G>A	NP_001361429.1:p.Ala46Thr
NM_001374501.1:c.166G>A	NP_001361430.1:p.Ala56Thr
NM_001374502.1:c.166G>A	NP_001361431.1:p.Ala56Thr
NM_001374503.1:c.166G>A	NP_001361432.1:p.Ala56Thr
NR_164653.1:n.656G>A
NR_164654.1:n.844G>A