Canonical Allele Identifier: CA324583408

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41527370G>A , CM000684.2:g.41527370G>A GRCh38
NC_000022.10:g.41923374G>A , CM000684.1:g.41923374G>A GRCh37
NC_000022.9:g.40253320G>A NCBI36
NG_032143.1:g.63246G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001018050.4:c.*1913C>T (POLR3H) MANE Select NP_001018060.1:n.*1913C>T
NM_001098.3:c.2036G>A (ACO2) MANE Select NP_001089.1:p.Arg679His
ENST00000216254.9:c.2036G>A (ACO2) MANE Select ENSP00000216254.4:p.Arg679His
ENST00000355209.9:c.*1913C>T (POLR3H) MANE Select ENSP00000347345.4:n.*1913C>T
NM_001018050.3:c.*1913C>T (POLR3H) NP_001018060.1:n.*1913C>T
NM_001018052.3:c.*1913C>T (POLR3H) NP_001018062.1:n.*1913C>T
NM_001018052.4:c.*1913C>T (POLR3H) NP_001018062.1:n.*1913C>T
NM_001098.2:c.2036G>A (ACO2) NP_001089.1:p.Arg679His
NM_001282884.1:c.*1913C>T (POLR3H) NP_001269813.1:n.*1913C>T
NM_001282884.2:c.*1913C>T (POLR3H) NP_001269813.1:n.*1913C>T
NM_001282885.1:c.*1913C>T (POLR3H) NP_001269814.1:n.*1913C>T
NM_001282885.2:c.*1913C>T (POLR3H) NP_001269814.1:n.*1913C>T
NM_138338.4:c.*1913C>T (POLR3H) NP_612211.1:n.*1913C>T
NM_138338.5:c.*1913C>T (POLR3H) NP_612211.1:n.*1913C>T
ENST00000216254.8:c.2036G>A (ACO2) ENSP00000216254.4:p.Arg679His
ENST00000355209.8:c.*1913C>T (POLR3H) ENSP00000347345.4:n.*1913C>T
ENST00000396504.6:c.*1913C>T (POLR3H) ENSP00000379761.2:n.*1913C>T
ENST00000396512.3:c.2111G>A (ACO2) ENSP00000379769.3:p.Arg704His
ENST00000676664.1:c.2099G>A (ACO2) ENSP00000503709.1:n.2099G>A
ENST00000676714.1:c.*1954G>A (ACO2) ENSP00000504699.1:n.*1954G>A
ENST00000676748.1:c.1937G>A (ACO2) ENSP00000503371.1:p.Arg646His
ENST00000676792.1:c.1871G>A (ACO2) ENSP00000503590.1:p.Arg624His
ENST00000676822.1:n.2284G>A (ACO2)
ENST00000676883.1:n.2055G>A (ACO2)
ENST00000676959.1:c.*493G>A (ACO2) ENSP00000504377.1:n.*493G>A
ENST00000677007.1:c.*811G>A (ACO2) ENSP00000504634.1:n.*811G>A
ENST00000677153.1:c.1937G>A (ACO2) ENSP00000504453.1:p.Arg646His
ENST00000677492.1:n.2995G>A (ACO2)
ENST00000677516.1:c.*1435G>A (ACO2) ENSP00000503370.1:n.*1435G>A
ENST00000677532.1:c.2060G>A (ACO2) ENSP00000503471.1:p.Arg687His
ENST00000677554.1:c.1844G>A (ACO2) ENSP00000504513.1:p.Arg615His
ENST00000677698.1:c.2409G>A (ACO2)
ENST00000678269.1:c.2111G>A (ACO2) ENSP00000504150.1:p.Arg704His
ENST00000678394.1:n.2751G>A (ACO2)
ENST00000678600.1:n.2077G>A (ACO2)
ENST00000678688.1:c.*1272G>A (ACO2) ENSP00000503990.1:n.*1272G>A
ENST00000678788.1:c.2021G>A (ACO2) ENSP00000504684.1:p.Arg674His
ENST00000678819.1:c.*1899G>A (ACO2) ENSP00000503199.1:n.*1899G>A
ENST00000679264.1:n.3017G>A (ACO2)
ENST00000679284.1:n.1929G>A (ACO2)
ENST00000679311.1:n.2283G>A (ACO2)
ENST00000679320.1:c.2100G>A (ACO2) ENSP00000504780.1:p.Ser700=
XM_017028812.1:c.1937G>A (ACO2) XP_016884301.1:p.Arg646His
XM_024452250.1:c.2036G>A (ACO2) XP_024308018.1:p.Arg679His