Canonical Allele Identifier: CA360866394
Gene: HSD17B4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119478991T>C , CM000667.2:g.119478991T>C GRCh38
NC_000005.9:g.118814686T>C , CM000667.1:g.118814686T>C GRCh37
NC_000005.8:g.118842585T>C NCBI36
NG_008182.1:g.31539T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000509514.6:c.592T>C ENSP00000426272.2:p.Ser198Pro
ENST00000518349.6:c.113-17552T>C ENSP00000507185.1:n.113-17552T>C
ENST00000682445.1:c.*473T>C ENSP00000508061.1:n.*473T>C
ENST00000682531.1:n.693T>C
ENST00000682626.1:c.*98T>C ENSP00000507857.1:n.*98T>C
ENST00000682996.1:c.592T>C ENSP00000507792.1:p.Ser198Pro
ENST00000683265.1:n.685T>C
ENST00000683371.1:c.*722T>C ENSP00000508376.1:n.*722T>C
ENST00000683390.1:n.2282T>C
ENST00000683549.1:n.513T>C
ENST00000683936.1:c.*477T>C ENSP00000507721.1:n.*477T>C
ENST00000683974.1:n.674T>C
ENST00000683996.1:c.181T>C ENSP00000507060.1:p.Ser61Pro
ENST00000684131.1:n.431T>C
ENST00000684160.1:c.*282T>C ENSP00000507821.1:n.*282T>C
ENST00000684214.1:c.592T>C ENSP00000508071.1:p.Ser198Pro
ENST00000414835.7:c.667T>C ENSP00000411960.3:p.Ser223Pro
ENST00000510025.7:c.592T>C MANE Select ENSP00000424940.3:p.Ser198Pro
ENST00000643250.1:c.*464T>C ENSP00000494737.1:n.*464T>C
ENST00000644146.1:c.*170T>C ENSP00000494808.1:n.*170T>C
ENST00000645099.1:c.151T>C ENSP00000496091.1:p.Ser51Pro
ENST00000645702.1:c.181T>C ENSP00000496432.1:p.Ser61Pro
ENST00000645832.1:c.*477T>C ENSP00000494316.1:n.*477T>C
ENST00000646058.1:c.592T>C ENSP00000493579.1:p.Ser198Pro
ENST00000646355.1:c.*598T>C ENSP00000493801.1:n.*598T>C
ENST00000646554.1:c.*570T>C ENSP00000494542.1:n.*570T>C
ENST00000647335.1:c.*559T>C ENSP00000495180.1:n.*559T>C
ENST00000647342.1:c.*523T>C ENSP00000494992.1:n.*523T>C
ENST00000256216.10:c.592T>C ENSP00000256216.6:p.Ser198Pro
ENST00000414835.6:c.172T>C ENSP00000411960.2:p.Ser58Pro
ENST00000442060.7:c.592T>C ENSP00000390208.3:p.Ser198Pro
ENST00000503168.5:n.581T>C
ENST00000504811.5:c.667T>C ENSP00000420914.1:p.Ser223Pro
ENST00000505181.5:n.295T>C
ENST00000509514.5:c.-293T>C ENSP00000426272.1:n.-293T>C
ENST00000510025.5:c.520T>C ENSP00000424940.1:p.Ser174Pro
ENST00000512644.1:n.160T>C
ENST00000513628.5:c.181T>C ENSP00000425993.1:p.Ser61Pro
ENST00000515235.6:n.652T>C
ENST00000515320.5:c.538T>C ENSP00000424613.1:p.Ser180Pro
NM_000414.3:c.592T>C NP_000405.1:p.Ser198Pro
NM_001199291.2:c.667T>C NP_001186220.1:p.Ser223Pro
NM_001199292.1:c.538T>C NP_001186221.1:p.Ser180Pro
NM_001292027.1:c.520T>C NP_001278956.1:p.Ser174Pro
NM_001292028.1:c.172T>C NP_001278957.1:p.Ser58Pro
NM_000414.4:c.592T>C MANE Select NP_000405.1:p.Ser198Pro
NM_001199291.3:c.667T>C NP_001186220.1:p.Ser223Pro
NM_001199292.2:c.538T>C NP_001186221.1:p.Ser180Pro
NM_001292027.2:c.520T>C NP_001278956.1:p.Ser174Pro
NM_001292028.2:c.172T>C NP_001278957.1:p.Ser58Pro
NM_001374497.1:c.583T>C NP_001361426.1:p.Ser195Pro
NM_001374498.1:c.592T>C NP_001361427.1:p.Ser198Pro
NM_001374499.1:c.265T>C NP_001361428.1:p.Ser89Pro
NM_001374500.1:c.151T>C NP_001361429.1:p.Ser51Pro
NM_001374501.1:c.181T>C NP_001361430.1:p.Ser61Pro
NM_001374502.1:c.181T>C NP_001361431.1:p.Ser61Pro
NM_001374503.1:c.181T>C NP_001361432.1:p.Ser61Pro
NR_164653.1:n.671T>C
NR_164654.1:n.859T>C