(used for variant description)
(last modified February 25, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_005530.2 in the IDH3A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering IDH3A transcript NM_005530.2.
(upstream sequence)
. . g.5027
gttgctgcggagccaggaggggaagcg c.-1
. . | 02. . . . g.10869
ATGGCTGGGCCCGCGTGGATCTCTAAG | GTCTCTCGGCTGCTGGGGGCATTCCACAACCCA c.60
M A G P A W I S K | V S R L L G A F H N P p.20
. . . | 03 . . . g.13201
AAACAGGTGACCAGAGGTTTTACTGGTGGT | GTTCAGACAGTAACTTTAATTCCAGGAGAT c.120
K Q V T R G F T G G | V Q T V T L I P G D p.40
. . . . . | 04 . g.15721
GGTATTGGCCCAGAAATTTCAGCTGCAGTTATGAAGATTTTTGATGCTGCCAAA | GCACCT c.180
G I G P E I S A A V M K I F D A A K | A P p.60
. . . . . . g.15781
ATTCAGTGGGAGGAGCGGAACGTCACTGCCATTCAAGGACCTGGAGGAAAGTGGATGATC c.240
I Q W E E R N V T A I Q G P G G K W M I p.80
. . . . | 05 . g.17215
CCTTCAGAGGCTAAAGAGTCCATGGATAAGAACAAGATGGGCTTGAAAG | GCCCTTTGAAG c.300
P S E A K E S M D K N K M G L K G | P L K p.100
. . . . . . g.17275
ACCCCAATAGCAGCCGGTCACCCATCTATGAATTTACTGCTGCGCAAAACATTTGACCTT c.360
T P I A A G H P S M N L L L R K T F D L p.120
. . . . . . g.17335
TACGCGAATGTCCGACCATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTA c.420
Y A N V R P C V S I E G Y K T P Y T D V p.140
. . . . . | 06. g.17860
AATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTG | ATT c.480
N I V T I R E N T E G E Y S G I E H V | I p.160
. . . . . . g.17920
GTTGATGGAGTCGTGCAGAGTATCAAGCTCATCACCGAGGGGGCGAGCAAGCGCATTGCT c.540
V D G V V Q S I K L I T E G A S K R I A p.180
. . . . . . g.17980
GAGTTTGCCTTTGAGTATGCCCGGAACAACCACCGGAGCAACGTCACGGCGGTGCACAAA c.600
E F A F E Y A R N N H R S N V T A V H K p.200
. | 07 . . . . . g.19179
GCCAACATCAT | GCGGATGTCAGATGGGCTTTTTCTACAAAAATGCAGGGAAGTTGCAGAA c.660
A N I M | R M S D G L F L Q K C R E V A E p.220
. . . . . | 08 . g.19345
AGCTGTAAAGATATTAAATTTAATGAGATGTACCTTGATACAGTATGTTTGAAT | ATGGTA c.720
S C K D I K F N E M Y L D T V C L N | M V p.240
. . . . . | 09 g.20616
CAAGATCCTTCCCAATTTGATGTTCTTGTTATGCCAAATTTGTATGGAGACATCCTTAG | T c.780
Q D P S Q F D V L V M P N L Y G D I L S | p.260
. . . . . . g.20676
GACTTGTGTGCAGGATTGATCGGAGGTCTCGGTGTGACACCAAGTGGCAACATTGGAGCC c.840
D L C A G L I G G L G V T P S G N I G A p.280
. . | 10 . . . . g.21809
AATGGGGTTGCAATTTTTGAGTCG | GTTCATGGGACGGCTCCAGACATTGCAGGCAAGGAC c.900
N G V A I F E S | V H G T A P D I A G K D p.300
. . . . . . g.21869
ATGGCGAATCCCACAGCCCTCCTGCTCAGTGCCGTGATGATGCTGCGCCACATGGGACTT c.960
M A N P T A L L L S A V M M L R H M G L p.320
. . . . . | 11. g.24548
TTTGACCATGCTGCAAGAATTGAGGCTGCGTGTTTTGCTACAATTAAGGACGGAAAG | AGC c.1020
F D H A A R I E A A C F A T I K D G K | S p.340
. . . . . . g.24608
TTGACAAAAGATTTGGGAGGCAATGCAAAATGCTCAGACTTCACAGAGGAAATCTGTCGC c.1080
L T K D L G G N A K C S D F T E E I C R p.360
. . g.24629
CGAGTAAAAGATTTAGATTAA c.1101
R V K D L D X p.366
. . . . . . g.24689
cacttctacaactggcatttacatcagtcactctaaatggacaccacatgaacctctgtt c.*60
. . . . . . g.24749
tagaatacctacgtatgtatgcattggtttgcttgtttcttgacagtacatttttagatc c.*120
. . . . . . g.24809
tggccttttcttaacaaaatctgtgcaaaagatgcaggtggatgtccctaggtctgtttt c.*180
. . . . . . g.24869
caaagaactttttccaagtgcttgttttatttattaagtgtctacctggtaaatgttttt c.*240
. . . . . . g.24929
tttgtaaactctgagtggactgtatcatttgctattctaaaccattttacacttaagtta c.*300
. . . . . . g.24989
aaatagtttctcttcagctgtaaataacaggatacagaattaacaagagaaaatgtctaa c.*360
. . . . . . g.25049
ctttttaagaaaaaccttattttcttcggtttttgaaaaacataatggaaataaaacagg c.*420
. . . . . . g.25109
atattgacataatagcacaaaatgacactcttctaaaactaaatgggcacaagagaattt c.*480
. . . . . . g.25169
tcctgggaaagttcacatcaaaaagagtgaatgtggtatatttctaaatgatatggaaaa c.*540
. . . . . . g.25229
tagagacagatttgtcctttacagaaattactgagtgtgaataaaaacttcagatccaag c.*600
. . . . . . g.25289
aaatatataatgagagatataatttttgttaataagacaaaggtaatatattggatacaa c.*660
. . . . . . g.25349
agacacaaatgtattgtgtgttcaattattttgttgtcttgagatttaatattctttcca c.*720
. . . . . . g.25409
agagcttttaatgaagcagagagctagtacttcattttcactggatacattttcagcatc c.*780
. . . . . . g.25469
atgagttgtcacagcctctgagcccctgatctgaagccagaagggctgagtgtattgtaa c.*840
. . . . . . g.25529
acttattcttgcatgttgctgtctgggaatggaccacactacagcaggtagttctggggg c.*900
. . . . . . g.25589
cgatactgccgaaaggcccgaacacatgtattttggctgcaattgaggaacttgggatgc c.*960
. . . . . . g.25649
tattaattttgtatttcagcaactgccccttctcctatcccaaagcaccaattactgccc c.*1020
. . . . . . g.25709
tctgcctcagcagtaccagtataagatgacattccaaagactggaggcaactcagcctga c.*1080
. . . . . . g.25769
gttaattcacaaaattatgccatgctggggcttgagcttgagcttgggcttaggcttggg c.*1140
. . . . . . g.25829
ctcagcttttgaccctcaggcatctcctttcccttcctgtcttcctctcccttctcctct c.*1200
. . . . . . g.25889
gctgcagcatgattttcttaatcttcagacactcactattttcatgaacagttaccctct c.*1260
. . . . . . g.25949
gtccccacaaccaaagacaactcatggcctcctttggcccttgtgtaacattgcaaacct c.*1320
. . . . . . g.26009
gtggctttgcaaaatgtacccaggtcacaaggggatttttttttttttagcaatgatatc c.*1380
. . . . . . g.26069
cctgtctgggtcactttttaagcttgtaaccgcccccccagacttataatcttaaatgta c.*1440
. . . . . . g.26129
ttttcctttgtttaagctgctgcttcctctgtttcattggattgtgccagttatcagtgg c.*1500
. . . g.26166
ctcttgggttcaaagtaataaagaattccaaaactga c.*1537
(downstream sequence)
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