Canonical Allele Identifier: CA322370

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41526302G>A , CM000684.2:g.41526302G>A GRCh38
NC_000022.10:g.41922306G>A , CM000684.1:g.41922306G>A GRCh37
NC_000022.9:g.40252252G>A NCBI36
NG_032143.1:g.62178G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216254.9:c.1802G>A (ACO2) MANE Select ENSP00000216254.4:p.Gly601Asp
ENST00000355209.9:c.*2981C>T (POLR3H) MANE Select ENSP00000347345.4:n.*2981C>T
ENST00000676664.1:c.1865G>A (ACO2) ENSP00000503709.1:n.1865G>A
ENST00000676714.1:c.*1720G>A (ACO2) ENSP00000504699.1:n.*1720G>A
ENST00000676748.1:c.1703G>A (ACO2) ENSP00000503371.1:p.Gly568Asp
ENST00000676792.1:c.1637G>A (ACO2) ENSP00000503590.1:p.Gly546Asp
ENST00000676822.1:n.2050G>A (ACO2)
ENST00000676883.1:n.1821G>A (ACO2)
ENST00000676959.1:c.*259G>A (ACO2) ENSP00000504377.1:n.*259G>A
ENST00000677007.1:c.*577G>A (ACO2) ENSP00000504634.1:n.*577G>A
ENST00000677153.1:c.1703G>A (ACO2) ENSP00000504453.1:p.Gly568Asp
ENST00000677492.1:n.2761G>A (ACO2)
ENST00000677516.1:c.*1201G>A (ACO2) ENSP00000503370.1:n.*1201G>A
ENST00000677532.1:c.1826G>A (ACO2) ENSP00000503471.1:p.Gly609Asp
ENST00000677554.1:c.1761+954G>A (ACO2) ENSP00000504513.1:n.1761+954G>A
ENST00000677698.1:c.2175G>A (ACO2)
ENST00000678269.1:c.1877G>A (ACO2) ENSP00000504150.1:p.Gly626Asp
ENST00000678394.1:n.2517G>A (ACO2)
ENST00000678600.1:n.1843G>A (ACO2)
ENST00000678688.1:c.*1038G>A (ACO2) ENSP00000503990.1:n.*1038G>A
ENST00000678788.1:c.1787G>A (ACO2) ENSP00000504684.1:p.Gly596Asp
ENST00000678819.1:c.*1665G>A (ACO2) ENSP00000503199.1:n.*1665G>A
ENST00000679264.1:n.2783G>A (ACO2)
ENST00000679284.1:n.1695G>A (ACO2)
ENST00000679311.1:n.2049G>A (ACO2)
ENST00000679320.1:c.1802G>A (ACO2) ENSP00000504780.1:p.Gly601Asp
ENST00000216254.8:c.1802G>A (ACO2) ENSP00000216254.4:p.Gly601Asp
ENST00000355209.8:c.*2981C>T (POLR3H) ENSP00000347345.4:n.*2981C>T
ENST00000396504.6:c.*2981C>T (POLR3H) ENSP00000379761.2:n.*2981C>T
ENST00000396512.3:c.1877G>A (ACO2) ENSP00000379769.3:p.Gly626Asp
NM_001018050.3:c.*2981C>T (POLR3H) NP_001018060.1:n.*2981C>T
NM_001018052.3:c.*2981C>T (POLR3H) NP_001018062.1:n.*2981C>T
NM_001098.2:c.1802G>A (ACO2) NP_001089.1:p.Gly601Asp
NM_001282884.1:c.*2981C>T (POLR3H) NP_001269813.1:n.*2981C>T
NM_001282885.1:c.*2981C>T (POLR3H) NP_001269814.1:n.*2981C>T
NM_138338.4:c.*2981C>T (POLR3H) NP_612211.1:n.*2981C>T
XM_017028812.1:c.1703G>A (ACO2) XP_016884301.1:p.Gly568Asp
XM_024452250.1:c.1802G>A (ACO2) XP_024308018.1:p.Gly601Asp
NM_001018050.4:c.*2981C>T (POLR3H) MANE Select NP_001018060.1:n.*2981C>T
NM_001098.3:c.1802G>A (ACO2) MANE Select NP_001089.1:p.Gly601Asp
NM_001018052.4:c.*2981C>T (POLR3H) NP_001018062.1:n.*2981C>T
NM_001282884.2:c.*2981C>T (POLR3H) NP_001269813.1:n.*2981C>T
NM_001282885.2:c.*2981C>T (POLR3H) NP_001269814.1:n.*2981C>T
NM_138338.5:c.*2981C>T (POLR3H) NP_612211.1:n.*2981C>T