Canonical Allele Identifier: CA360869264
Community Standard Title: NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119525948T>A , CM000667.2:g.119525948T>A GRCh38
NC_000005.9:g.118861643T>A , CM000667.1:g.118861643T>A GRCh37
NC_000005.8:g.118889542T>A NCBI36
NG_008182.1:g.78496T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.1605T>A MANE Select NP_000405.1:p.Cys535Ter
ENST00000510025.7:c.1605T>A MANE Select ENSP00000424940.3:p.Cys535Ter
NM_000414.3:c.1605T>A NP_000405.1:p.Cys535Ter
NM_001199291.2:c.1680T>A NP_001186220.1:p.Cys560Ter
NM_001199291.3:c.1680T>A NP_001186220.1:p.Cys560Ter
NM_001199292.1:c.1551T>A NP_001186221.1:p.Cys517Ter
NM_001199292.2:c.1551T>A NP_001186221.1:p.Cys517Ter
NM_001292027.1:c.1533T>A NP_001278956.1:p.Cys511Ter
NM_001292027.2:c.1533T>A NP_001278956.1:p.Cys511Ter
NM_001292028.1:c.1185T>A NP_001278957.1:p.Cys395Ter
NM_001292028.2:c.1185T>A NP_001278957.1:p.Cys395Ter
NM_001374497.1:c.1596T>A NP_001361426.1:p.Cys532Ter
NM_001374498.1:c.1533T>A NP_001361427.1:p.Cys511Ter
NM_001374499.1:c.1278T>A NP_001361428.1:p.Cys426Ter
NM_001374500.1:c.1164T>A NP_001361429.1:p.Cys388Ter
NM_001374501.1:c.1194T>A NP_001361430.1:p.Cys398Ter
NM_001374502.1:c.1194T>A NP_001361431.1:p.Cys398Ter
NM_001374503.1:c.1194T>A NP_001361432.1:p.Cys398Ter
NR_164653.1:n.1702T>A
NR_164654.1:n.1970T>A
ENST00000256216.10:c.1605T>A ENSP00000256216.6:p.Cys535Ter
ENST00000414835.6:c.1185T>A ENSP00000411960.2:p.Cys395Ter
ENST00000414835.7:c.1680T>A ENSP00000411960.3:p.Cys560Ter
ENST00000442060.7:c.*167T>A ENSP00000390208.3:n.*167T>A
ENST00000504811.5:c.1680T>A ENSP00000420914.1:p.Cys560Ter
ENST00000507353.1:n.213T>A
ENST00000509514.5:c.819T>A ENSP00000426272.1:p.Cys273Ter
ENST00000509514.6:c.1536T>A ENSP00000426272.2:p.Cys512Ter
ENST00000509951.5:n.60T>A
ENST00000510025.5:c.1533T>A ENSP00000424940.1:p.Cys511Ter
ENST00000513628.5:c.1194T>A ENSP00000425993.1:p.Cys398Ter
ENST00000515235.6:n.3358T>A
ENST00000515320.5:c.1551T>A ENSP00000424613.1:p.Cys517Ter
ENST00000518349.5:n.739T>A
ENST00000518349.6:c.849T>A ENSP00000507185.1:p.Cys283Ter
ENST00000520244.5:n.388T>A
ENST00000520244.6:n.3343T>A
ENST00000522415.5:n.272T>A
ENST00000643250.1:c.*1477T>A ENSP00000494737.1:n.*1477T>A
ENST00000644146.1:c.*2876T>A ENSP00000494808.1:n.*2876T>A
ENST00000645099.1:c.1164T>A ENSP00000496091.1:p.Cys388Ter
ENST00000645702.1:c.*1008T>A ENSP00000496432.1:n.*1008T>A
ENST00000645832.1:c.*1490T>A ENSP00000494316.1:n.*1490T>A
ENST00000646058.1:c.1605T>A ENSP00000493579.1:p.Cys535Ter
ENST00000646355.1:c.*1611T>A ENSP00000493801.1:n.*1611T>A
ENST00000646554.1:c.*1583T>A ENSP00000494542.1:n.*1583T>A
ENST00000647335.1:c.*1572T>A ENSP00000495180.1:n.*1572T>A
ENST00000647342.1:c.*1536T>A ENSP00000494992.1:n.*1536T>A
ENST00000682445.1:c.*1486T>A ENSP00000508061.1:n.*1486T>A
ENST00000682531.1:n.3497T>A
ENST00000682626.1:c.*1111T>A ENSP00000507857.1:n.*1111T>A
ENST00000682996.1:c.1533T>A ENSP00000507792.1:p.Cys511Ter
ENST00000683265.1:n.3391T>A
ENST00000683335.1:n.3007T>A
ENST00000683371.1:c.*1735T>A ENSP00000508376.1:n.*1735T>A
ENST00000683372.1:n.3615T>A
ENST00000683390.1:n.3295T>A
ENST00000683476.1:n.447T>A
ENST00000683549.1:n.3219T>A
ENST00000683936.1:c.*3183T>A ENSP00000507721.1:n.*3183T>A
ENST00000683974.1:n.3334T>A
ENST00000683996.1:c.*815T>A ENSP00000507060.1:n.*815T>A
ENST00000684131.1:n.3137T>A
ENST00000684160.1:c.*1295T>A ENSP00000507821.1:n.*1295T>A
ENST00000684214.1:c.1605T>A ENSP00000508071.1:p.Cys535Ter