Canonical Allele Identifier: CA394113076

Linked Data

dbSNP Id: rs1596550615

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681842C>T , CM000678.2:g.681842C>T GRCh38
NC_000016.9:g.731842C>T , CM000678.1:g.731842C>T GRCh37
NC_000016.8:g.671843C>T NCBI36
NG_034141.1:g.6732C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.574C>T (STUB1) MANE Select ENSP00000219548.4:p.His192Tyr
ENST00000609261.6:c.*952G>A (JMJD8) MANE Select ENSP00000477481.1:n.*952G>A
ENST00000219548.8:c.574C>T (STUB1) ENSP00000219548.4:p.His192Tyr
ENST00000412368.6:c.*952G>A (JMJD8) ENSP00000399475.2:n.*952G>A
ENST00000563505.5:n.670C>T (STUB1)
ENST00000564316.1:c.173C>T (STUB1)
ENST00000564370.5:c.358C>T (STUB1) ENSP00000456875.1:p.His120Tyr
ENST00000565302.5:n.1831G>A (JMJD8)
ENST00000565677.5:c.358C>T (STUB1) ENSP00000457228.1:p.His120Tyr
ENST00000566181.2:n.343C>T (STUB1)
ENST00000566408.5:c.291C>T (STUB1)
ENST00000567120.5:n.2034G>A (JMJD8)
ENST00000567173.5:c.517C>T (STUB1) ENSP00000456591.1:p.His173Tyr
ENST00000568689.5:n.1855G>A (JMJD8)
ENST00000569248.5:n.1148C>T (STUB1)
ENST00000609261.5:c.*952G>A (JMJD8) ENSP00000477481.1:n.*952G>A
ENST00000620831.4:c.-50+38539C>T (MSLN) ENSP00000482893.1:n.-50+38539C>T
NM_001005920.2:c.*952G>A (JMJD8) NP_001005920.2:n.*952G>A
NM_001293197.1:c.358C>T (STUB1) NP_001280126.1:p.His120Tyr
NM_005861.3:c.574C>T (STUB1) NP_005852.2:p.His192Tyr
XM_005255295.3:c.*986G>A (JMJD8) XP_005255352.1:n.*986G>A
XM_005255297.3:c.*952G>A (JMJD8) XP_005255354.1:n.*952G>A
XM_011522474.1:c.*952G>A (JMJD8) XP_011520776.1:n.*952G>A
NM_001005920.3:c.*952G>A (JMJD8) NP_001005920.3:n.*952G>A
NM_001323918.2:c.*986G>A (JMJD8) NP_001310847.2:n.*986G>A
NM_001323919.2:c.*952G>A (JMJD8) NP_001310848.2:n.*952G>A
NM_001323920.2:c.*952G>A (JMJD8) NP_001310849.2:n.*952G>A
NM_001323922.2:c.*986G>A (JMJD8) NP_001310851.2:n.*986G>A
NR_136650.2:n.1845G>A (JMJD8)
NR_136651.2:n.1850G>A (JMJD8)
NR_136652.2:n.1760G>A (JMJD8)
NM_001005920.4:c.*952G>A (JMJD8) MANE Select NP_001005920.3:n.*952G>A
NM_005861.4:c.574C>T (STUB1) MANE Select NP_005852.2:p.His192Tyr
NM_001293197.2:c.358C>T (STUB1) NP_001280126.1:p.His120Tyr
NM_001323918.3:c.*986G>A (JMJD8) NP_001310847.2:n.*986G>A
NM_001323919.3:c.*952G>A (JMJD8) NP_001310848.2:n.*952G>A
NM_001323920.3:c.*952G>A (JMJD8) NP_001310849.2:n.*952G>A
NM_001323922.3:c.*986G>A (JMJD8) NP_001310851.2:n.*986G>A
NR_136650.3:n.1845G>A (JMJD8)
NR_136651.3:n.1850G>A (JMJD8)
NR_136652.3:n.1760G>A (JMJD8)