Transcript #00003012 (NM_018188.3, ATAD3A gene)

Transcript name transcript variant 1
Gene name ATAD3A (ATPase family, AAA domain containing 3A)
Chromosome 1
Transcript - NCBI ID NM_018188.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_060658.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

67 entries on 1 page. Showing entries 1 - 67.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.-126_1358+266[2] r.-126_1358::[NM_001039211.2:690_*1628] p.Met1_Gly453::[NP_060658.3:Leu231_Ser411]
+/. - c.-126_1358+266[2] r.-126_1358::[NM_001039211.2:690_*1628] p.Met1_Gly453::[NP_060658.3:Leu231_Ser411]
+/. - c.-126_1358+266[2] r.-126_1358::[NM_001039211.2:690_*1628] p.Met1_Gly453::[NP_060658.3:Leu231_Ser411]
+/. - c.-126_1358+266[2] r.-126_1358::[NM_001039211.2:690_*1628] p.Met1_Gly453::[NP_060658.3:Leu231_Ser411]
+/. - c.-126_1359-303[2] r.-126_1358::[NM_001039211.2:690_*1628] p.Met1_Gly453::[NP_060658.3:Leu231_Ser411]
+/. - c.-126_286[0] r.[NM_031921.4:-101_282]::283_*615 p.[NP_060658.3:Met1_Lys94]::Met95_Ser634
+/. - c.-126_588+254[0] r.[NM_031921.4:-101_444]::589_*615 p.[NP_060658.3:Met1_Gln148]::Gln197_Ser634
+/. - c.-126_588+96[0] r.[NM_031921.4:-101_444]::589_*615 p.[NP_060658.3:Met1_Gln148]::Gln197_Ser634
+/. - c.-126_658+54[0] r.[NM_031921.4:-101_514]::659_*615 p.[NP_060658.3:Met1_Ala172]::Thr221_Ser634
+/. - c.-126_658+54[0] r.[NM_031921.4:-101_514]::659_*615 p.[NP_060658.3:Met1_Ala172]::Thr221_Ser634
+/. - c.-126_658+54[0] r.[NM_031921.4:-101_514]::659_*615 p.[NP_060658.3:Met1_Ala172]::Thr221_Ser634
+/. - c.? r.? p.?
?/. - c.19A>G r.(?) p.(Ile7Val)
-/. - c.45C>T r.(?) p.(Gly15=)
-?/. - c.87C>A r.(?) p.(Ala29=)
+?/. - c.230T>G r.(?) p.(Leu77Arg)
-?/. - c.234A>G r.(?) p.(Ala78=)
-?/. - c.287G>A r.(?) p.(Arg96Gln)
-?/. - c.302G>A r.(?) p.(Ser101Asn)
-?/. - c.340C>T r.(?) p.(Arg114Cys)
-?/. - c.382G>A r.(?) p.(Ala128Thr)
+?/. - c.556C>T r.(?) p.(Arg186Trp)
-?/. - c.592C>T r.(?) p.(Leu198Phe)
+?/. - c.634C>T r.(?) p.(Gln212Ter)
-?/. - c.715G>A r.(?) p.(Ala239Thr)
?/. - c.748G>A r.(?) p.(Glu250Lys)
-?/. - c.790G>T r.(?) p.(Ala264Ser)
?/. - c.800G>A r.(?) p.(Arg267His)
-?/. - c.874T>C r.(?) p.(Trp292Arg)
-?/. - c.895-6C>T r.(=) p.(=)
?/. - c.961C>A r.(?) p.(Arg321Ser)
?/. - c.1051-5G>A r.spl? p.?
?/. - c.1084G>A r.(?) p.(Ala362Thr)
?/. - c.1085C>T r.(?) p.(Ala362Val)
-?/. - c.1110C>T r.(?) p.(Pro370=)
-?/. - c.1233+8C>T r.(=) p.(=)
+/. - c.1234-2A>T r.spl? p.?
?/. - c.1278C>T r.(?) p.(Gly426=)
-?/. - c.1352G>A r.(?) p.(Arg451Gln)
?/. - c.1355G>A r.(?) p.(Arg452His)
-/. - c.1359-6T>C r.(=) p.(=)
?/. - c.1447G>A r.(?) p.(Ala483Thr)
-?/. - c.1491G>A r.(?) p.(Leu497=)
?/. - c.1540C>T r.(?) p.(Arg514Cys)
?/. - c.1555G>A r.(?) p.(Val519Ile)
+/. 15 c.1726C>T r.(?) p.(Arg576Trp)
+?/. - c.1727G>A r.(?) p.(Arg576Gln)
-?/. - c.1732A>G r.(?) p.(Ile578Val)
?/. - c.1759-4C>G r.spl? p.?
?/. - c.1777G>A r.(?) p.(Glu593Lys)
?/. - c.1777G>A r.(?) p.(Glu593Lys)
?/. - c.1783G>A r.(?) p.(Gly595Arg)
?/. - c.1847A>T r.(?) p.(Lys616Met)
-?/. - c.1865C>T r.(?) p.(Ala622Val)
+/. - c.*1300G>A r.(=) p.(=)
-/. - c.*1317G>A r.(=) p.(=)
-?/. - c.*1355C>T r.(=) p.(=)
-?/. - c.*1356G>A r.(=) p.(=)
-?/. - c.*1377C>T r.(=) p.(=)
?/. - c.*1420C>T r.(=) p.(=)
?/. - c.*1420C>T r.(=) p.(=)
?/. - c.*1609A>T r.(=) p.(=)
-?/. - c.*1626G>A r.(=) p.(=)
?/. - c.*1651G>A r.(=) p.(=)
?/. - c.*1651G>A r.(=) p.(=)
-?/. - c.*1651G>A r.(=) p.(=)
?/. - c.*1694C>T r.(=) p.(=)
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