Canonical Allele Identifier: CA394113104

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681851G>A , CM000678.2:g.681851G>A GRCh38
NC_000016.9:g.731851G>A , CM000678.1:g.731851G>A GRCh37
NC_000016.8:g.671852G>A NCBI36
NG_034141.1:g.6741G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.583G>A (STUB1) MANE Select ENSP00000219548.4:p.Ala195Thr
ENST00000609261.6:c.*943C>T (JMJD8) MANE Select ENSP00000477481.1:n.*943C>T
ENST00000219548.8:c.583G>A (STUB1) ENSP00000219548.4:p.Ala195Thr
ENST00000412368.6:c.*943C>T (JMJD8) ENSP00000399475.2:n.*943C>T
ENST00000563505.5:n.679G>A (STUB1)
ENST00000564316.1:c.182G>A (STUB1)
ENST00000564370.5:c.367G>A (STUB1) ENSP00000456875.1:p.Ala123Thr
ENST00000565302.5:n.1822C>T (JMJD8)
ENST00000565677.5:c.367G>A (STUB1) ENSP00000457228.1:p.Ala123Thr
ENST00000566181.2:n.352G>A (STUB1)
ENST00000566408.5:c.300G>A (STUB1)
ENST00000567120.5:n.2025C>T (JMJD8)
ENST00000567173.5:c.526G>A (STUB1) ENSP00000456591.1:p.Ala176Thr
ENST00000568689.5:n.1846C>T (JMJD8)
ENST00000569248.5:n.1157G>A (STUB1)
ENST00000609261.5:c.*943C>T (JMJD8) ENSP00000477481.1:n.*943C>T
ENST00000620831.4:c.-50+38548G>A (MSLN) ENSP00000482893.1:n.-50+38548G>A
NM_001005920.2:c.*943C>T (JMJD8) NP_001005920.2:n.*943C>T
NM_001293197.1:c.367G>A (STUB1) NP_001280126.1:p.Ala123Thr
NM_005861.3:c.583G>A (STUB1) NP_005852.2:p.Ala195Thr
XM_005255295.3:c.*977C>T (JMJD8) XP_005255352.1:n.*977C>T
XM_005255297.3:c.*943C>T (JMJD8) XP_005255354.1:n.*943C>T
XM_011522474.1:c.*943C>T (JMJD8) XP_011520776.1:n.*943C>T
NM_001005920.3:c.*943C>T (JMJD8) NP_001005920.3:n.*943C>T
NM_001323918.2:c.*977C>T (JMJD8) NP_001310847.2:n.*977C>T
NM_001323919.2:c.*943C>T (JMJD8) NP_001310848.2:n.*943C>T
NM_001323920.2:c.*943C>T (JMJD8) NP_001310849.2:n.*943C>T
NM_001323922.2:c.*977C>T (JMJD8) NP_001310851.2:n.*977C>T
NR_136650.2:n.1836C>T (JMJD8)
NR_136651.2:n.1841C>T (JMJD8)
NR_136652.2:n.1751C>T (JMJD8)
NM_001005920.4:c.*943C>T (JMJD8) MANE Select NP_001005920.3:n.*943C>T
NM_005861.4:c.583G>A (STUB1) MANE Select NP_005852.2:p.Ala195Thr
NM_001293197.2:c.367G>A (STUB1) NP_001280126.1:p.Ala123Thr
NM_001323918.3:c.*977C>T (JMJD8) NP_001310847.2:n.*977C>T
NM_001323919.3:c.*943C>T (JMJD8) NP_001310848.2:n.*943C>T
NM_001323920.3:c.*943C>T (JMJD8) NP_001310849.2:n.*943C>T
NM_001323922.3:c.*977C>T (JMJD8) NP_001310851.2:n.*977C>T
NR_136650.3:n.1836C>T (JMJD8)
NR_136651.3:n.1841C>T (JMJD8)
NR_136652.3:n.1751C>T (JMJD8)