Canonical Allele Identifier: CA250420
Community Standard Title: NM_001018050.4(POLR3H):c.*2964G>A

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41526319C>T , CM000684.2:g.41526319C>T GRCh38
NC_000022.10:g.41922323C>T , CM000684.1:g.41922323C>T GRCh37
NC_000022.9:g.40252269C>T NCBI36
NG_032143.1:g.62195C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001018050.4:c.*2964G>A (POLR3H) MANE Select NP_001018060.1:n.*2964G>A
NM_001098.3:c.1819C>T (ACO2) MANE Select NP_001089.1:p.Arg607Cys
ENST00000216254.9:c.1819C>T (ACO2) MANE Select ENSP00000216254.4:p.Arg607Cys
ENST00000355209.9:c.*2964G>A (POLR3H) MANE Select ENSP00000347345.4:n.*2964G>A
NM_001018050.3:c.*2964G>A (POLR3H) NP_001018060.1:n.*2964G>A
NM_001018052.3:c.*2964G>A (POLR3H) NP_001018062.1:n.*2964G>A
NM_001018052.4:c.*2964G>A (POLR3H) NP_001018062.1:n.*2964G>A
NM_001098.2:c.1819C>T (ACO2) NP_001089.1:p.Arg607Cys
NM_001282884.1:c.*2964G>A (POLR3H) NP_001269813.1:n.*2964G>A
NM_001282884.2:c.*2964G>A (POLR3H) NP_001269813.1:n.*2964G>A
NM_001282885.1:c.*2964G>A (POLR3H) NP_001269814.1:n.*2964G>A
NM_001282885.2:c.*2964G>A (POLR3H) NP_001269814.1:n.*2964G>A
NM_138338.4:c.*2964G>A (POLR3H) NP_612211.1:n.*2964G>A
NM_138338.5:c.*2964G>A (POLR3H) NP_612211.1:n.*2964G>A
ENST00000216254.8:c.1819C>T (ACO2) ENSP00000216254.4:p.Arg607Cys
ENST00000355209.8:c.*2964G>A (POLR3H) ENSP00000347345.4:n.*2964G>A
ENST00000396504.6:c.*2964G>A (POLR3H) ENSP00000379761.2:n.*2964G>A
ENST00000396512.3:c.1894C>T (ACO2) ENSP00000379769.3:p.Arg632Cys
ENST00000676664.1:c.1882C>T (ACO2) ENSP00000503709.1:n.1882C>T
ENST00000676714.1:c.*1737C>T (ACO2) ENSP00000504699.1:n.*1737C>T
ENST00000676748.1:c.1720C>T (ACO2) ENSP00000503371.1:p.Arg574Cys
ENST00000676792.1:c.1654C>T (ACO2) ENSP00000503590.1:p.Arg552Cys
ENST00000676822.1:n.2067C>T (ACO2)
ENST00000676883.1:n.1838C>T (ACO2)
ENST00000676959.1:c.*276C>T (ACO2) ENSP00000504377.1:n.*276C>T
ENST00000677007.1:c.*594C>T (ACO2) ENSP00000504634.1:n.*594C>T
ENST00000677153.1:c.1720C>T (ACO2) ENSP00000504453.1:p.Arg574Cys
ENST00000677492.1:n.2778C>T (ACO2)
ENST00000677516.1:c.*1218C>T (ACO2) ENSP00000503370.1:n.*1218C>T
ENST00000677532.1:c.1843C>T (ACO2) ENSP00000503471.1:p.Arg615Cys
ENST00000677554.1:c.1762-969C>T (ACO2) ENSP00000504513.1:n.1762-969C>T
ENST00000677698.1:c.2192C>T (ACO2)
ENST00000678269.1:c.1894C>T (ACO2) ENSP00000504150.1:p.Arg632Cys
ENST00000678394.1:n.2534C>T (ACO2)
ENST00000678600.1:n.1860C>T (ACO2)
ENST00000678688.1:c.*1055C>T (ACO2) ENSP00000503990.1:n.*1055C>T
ENST00000678788.1:c.1804C>T (ACO2) ENSP00000504684.1:p.Arg602Cys
ENST00000678819.1:c.*1682C>T (ACO2) ENSP00000503199.1:n.*1682C>T
ENST00000679264.1:n.2800C>T (ACO2)
ENST00000679284.1:n.1712C>T (ACO2)
ENST00000679311.1:n.2066C>T (ACO2)
ENST00000679320.1:c.1819C>T (ACO2) ENSP00000504780.1:p.Arg607Cys
XM_017028812.1:c.1720C>T (ACO2) XP_016884301.1:p.Arg574Cys
XM_024452250.1:c.1819C>T (ACO2) XP_024308018.1:p.Arg607Cys