Canonical Allele Identifier: CA2201204935

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681836G= , CM000678.2:g.681836G= GRCh38
NC_000016.9:g.731836G= , CM000678.1:g.731836G= GRCh37
NC_000016.8:g.671837G= NCBI36
NG_034141.1:g.6726G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.568G= (STUB1) MANE Select ENSP00000219548.4:p.Asp190=
ENST00000609261.6:c.*958C= (JMJD8) MANE Select ENSP00000477481.1:n.*958C=
ENST00000219548.8:c.568G= (STUB1) ENSP00000219548.4:p.Asp190=
ENST00000412368.6:c.*958C= (JMJD8) ENSP00000399475.2:n.*958C=
ENST00000563505.5:n.664G= (STUB1)
ENST00000564316.1:c.167G= (STUB1)
ENST00000564370.5:c.352G= (STUB1) ENSP00000456875.1:p.Asp118=
ENST00000565302.5:n.1837C= (JMJD8)
ENST00000565677.5:c.352G= (STUB1) ENSP00000457228.1:p.Asp118=
ENST00000566181.2:n.337G= (STUB1)
ENST00000566408.5:c.285G= (STUB1)
ENST00000567120.5:n.2040C= (JMJD8)
ENST00000567173.5:c.511G= (STUB1) ENSP00000456591.1:p.Asp171=
ENST00000568689.5:n.1861C= (JMJD8)
ENST00000569248.5:n.1142G= (STUB1)
ENST00000609261.5:c.*958C= (JMJD8) ENSP00000477481.1:n.*958C=
ENST00000620831.4:c.-50+38533G= (MSLN) ENSP00000482893.1:n.-50+38533G=
NM_001005920.2:c.*958C= (JMJD8) NP_001005920.2:n.*958C=
NM_001293197.1:c.352G= (STUB1) NP_001280126.1:p.Asp118=
NM_005861.3:c.568G= (STUB1) NP_005852.2:p.Asp190=
XM_005255295.3:c.*992C= (JMJD8) XP_005255352.1:n.*992C=
XM_005255297.3:c.*958C= (JMJD8) XP_005255354.1:n.*958C=
XM_011522474.1:c.*958C= (JMJD8) XP_011520776.1:n.*958C=
NM_001005920.3:c.*958C= (JMJD8) NP_001005920.3:n.*958C=
NM_001323918.2:c.*992C= (JMJD8) NP_001310847.2:n.*992C=
NM_001323919.2:c.*958C= (JMJD8) NP_001310848.2:n.*958C=
NM_001323920.2:c.*958C= (JMJD8) NP_001310849.2:n.*958C=
NM_001323922.2:c.*992C= (JMJD8) NP_001310851.2:n.*992C=
NR_136650.2:n.1851C= (JMJD8)
NR_136651.2:n.1856C= (JMJD8)
NR_136652.2:n.1766C= (JMJD8)
NM_001005920.4:c.*958C= (JMJD8) MANE Select NP_001005920.3:n.*958C=
NM_005861.4:c.568G= (STUB1) MANE Select NP_005852.2:p.Asp190=
NM_001293197.2:c.352G= (STUB1) NP_001280126.1:p.Asp118=
NM_001323918.3:c.*992C= (JMJD8) NP_001310847.2:n.*992C=
NM_001323919.3:c.*958C= (JMJD8) NP_001310848.2:n.*958C=
NM_001323920.3:c.*958C= (JMJD8) NP_001310849.2:n.*958C=
NM_001323922.3:c.*992C= (JMJD8) NP_001310851.2:n.*992C=
NR_136650.3:n.1851C= (JMJD8)
NR_136651.3:n.1856C= (JMJD8)
NR_136652.3:n.1766C= (JMJD8)