Canonical Allele Identifier: CA394112942

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681822A>C , CM000678.2:g.681822A>C GRCh38
NC_000016.9:g.731822A>C , CM000678.1:g.731822A>C GRCh37
NC_000016.8:g.671823A>C NCBI36
NG_034141.1:g.6712A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.554A>C (STUB1) MANE Select ENSP00000219548.4:p.Glu185Ala
ENST00000609261.6:c.*972T>G (JMJD8) MANE Select ENSP00000477481.1:n.*972T>G
ENST00000219548.8:c.554A>C (STUB1) ENSP00000219548.4:p.Glu185Ala
ENST00000412368.6:c.*972T>G (JMJD8) ENSP00000399475.2:n.*972T>G
ENST00000563505.5:n.650A>C (STUB1)
ENST00000564316.1:c.153A>C (STUB1)
ENST00000564370.5:c.338A>C (STUB1) ENSP00000456875.1:p.Glu113Ala
ENST00000565302.5:n.1851T>G (JMJD8)
ENST00000565677.5:c.338A>C (STUB1) ENSP00000457228.1:p.Glu113Ala
ENST00000566181.2:n.323A>C (STUB1)
ENST00000566408.5:c.271A>C (STUB1)
ENST00000567120.5:n.2054T>G (JMJD8)
ENST00000567173.5:c.497A>C (STUB1) ENSP00000456591.1:p.Glu166Ala
ENST00000568689.5:n.1875T>G (JMJD8)
ENST00000569248.5:n.1128A>C (STUB1)
ENST00000609261.5:c.*972T>G (JMJD8) ENSP00000477481.1:n.*972T>G
ENST00000620831.4:c.-50+38519A>C (MSLN) ENSP00000482893.1:n.-50+38519A>C
NM_001005920.2:c.*972T>G (JMJD8) NP_001005920.2:n.*972T>G
NM_001293197.1:c.338A>C (STUB1) NP_001280126.1:p.Glu113Ala
NM_005861.3:c.554A>C (STUB1) NP_005852.2:p.Glu185Ala
XM_005255295.3:c.*1006T>G (JMJD8) XP_005255352.1:n.*1006T>G
XM_005255297.3:c.*972T>G (JMJD8) XP_005255354.1:n.*972T>G
XM_011522474.1:c.*972T>G (JMJD8) XP_011520776.1:n.*972T>G
NM_001005920.3:c.*972T>G (JMJD8) NP_001005920.3:n.*972T>G
NM_001323918.2:c.*1006T>G (JMJD8) NP_001310847.2:n.*1006T>G
NM_001323919.2:c.*972T>G (JMJD8) NP_001310848.2:n.*972T>G
NM_001323920.2:c.*972T>G (JMJD8) NP_001310849.2:n.*972T>G
NM_001323922.2:c.*1006T>G (JMJD8) NP_001310851.2:n.*1006T>G
NR_136650.2:n.1865T>G (JMJD8)
NR_136651.2:n.1870T>G (JMJD8)
NR_136652.2:n.1780T>G (JMJD8)
NM_001005920.4:c.*972T>G (JMJD8) MANE Select NP_001005920.3:n.*972T>G
NM_005861.4:c.554A>C (STUB1) MANE Select NP_005852.2:p.Glu185Ala
NM_001293197.2:c.338A>C (STUB1) NP_001280126.1:p.Glu113Ala
NM_001323918.3:c.*1006T>G (JMJD8) NP_001310847.2:n.*1006T>G
NM_001323919.3:c.*972T>G (JMJD8) NP_001310848.2:n.*972T>G
NM_001323920.3:c.*972T>G (JMJD8) NP_001310849.2:n.*972T>G
NM_001323922.3:c.*1006T>G (JMJD8) NP_001310851.2:n.*1006T>G
NR_136650.3:n.1865T>G (JMJD8)
NR_136651.3:n.1870T>G (JMJD8)
NR_136652.3:n.1780T>G (JMJD8)