(used for variant description)
(last modified January 31, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_004544.3 in the NDUFA10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering NDUFA10 transcript NM_004544.3.
(upstream sequence)
. . . . g.5041
gcaccccggccgtgacgtcacggcagcgcgccggccgcgag c.-61
. . . . . . g.5101
agagggccccgtcgcgaccgcgtccccttgggtccttgatcctgagctgaccgggtagcc c.-1
. . . . . . g.5161
ATGGCCTTGCGGCTCCTGAAGCTGGCAGCGACGTCCGCGTCCGCCCGGGTCGTGGCGGCG c.60
M A L R L L K L A A T S A S A R V V A A p.20
. | 02 . . . . . g.8107
GGCGCCCAGCGCGTG | AGAGGAATTCATAGCAGTGTGCAGTGCAAACTGCGCTATGGAATG c.120
G A Q R V | R G I H S S V Q C K L R Y G M p.40
. . . . . . g.8167
TGGCATTTCCTACTTGGGGATAAAGCAAGCAAAAGACTGACAGAACGCAGCAGAGTGATA c.180
W H F L L G D K A S K R L T E R S R V I p.60
. . . . . . g.8227
ACTGTAGATGGCAATATATGTACTGGAAAAGGCAAACTTGCAAAAGAAATAGCAGAGAAA c.240
T V D G N I C T G K G K L A K E I A E K p.80
| 03 . . . . . . g.9046
CTAG | GCTTCAAGCACTTTCCTGAAGCGGGGATTCATTATCCAGACAGTACCACAGGAGAT c.300
L G | F K H F P E A G I H Y P D S T T G D p.100
. . . . . . g.9106
GGGAAGCCCCTCGCCACCGACTATAATGGCAACTGTAGTTTGGAGAAATTTTACGATGAT c.360
G K P L A T D Y N G N C S L E K F Y D D p.120
. . . . . . g.9166
CCGAGAAGCAATGATGGCAACAGTTACCGCCTGCAGTCCTGGTTGTACAGCAGTCGCCTG c.420
P R S N D G N S Y R L Q S W L Y S S R L p.140
. . . . | 04 . . g.11783
CTGCAGTACTCAGATGCCTTGGAGCACTTGCTGACCACAG | GACAAGGTGTTGTGTTGGAG c.480
L Q Y S D A L E H L L T T G | Q G V V L E p.160
. . . . . . g.11843
CGCTCCATCTTCAGTGACTTTGTGTTCCTGGAGGCGATGTACAACCAGGGATTCATCCGA c.540
R S I F S D F V F L E A M Y N Q G F I R p.180
| 05. . . . . . g.15595
AAGCAGT | GTGTGGACCACTACAACGAGGTGAAGAGCGTCACCATCTGCGATTACCTGCCC c.600
K Q C | V D H Y N E V K S V T I C D Y L P p.200
. . . . . . g.15655
CCCCACCTGGTGATTTACATCGATGTGCCCGTTCCAGAGGTCCAGAGGCGGATTCAGAAG c.660
P H L V I Y I D V P V P E V Q R R I Q K p.220
| 06 . . . . . g.18757
AAAGGAGAT | CCACATGAAATGAAGATCACCTCTGCCTATCTACAGGACATTGAGAATGCC c.720
K G D | P H E M K I T S A Y L Q D I E N A p.240
. . | 07 . . . g.23063
TATAAGAAAACCTTTCTCCCTGAGATGAG | TGAAAAATGTGAGGTTTTACAATATTCTGCA c.780
Y K K T F L P E M S | E K C E V L Q Y S A p.260
. . | 08 . . . . g.25143
AGGGAAGCTCAAGATTCAAAAAAG | GTGGTAGAGGACATTGAATACCTGAAGTTCGATAAA c.840
R E A Q D S K K | V V E D I E Y L K F D K p.280
. . . . . | 09 . g.40230
GGGCCGTGGCTCAAGCAGGACAATCGCACTTTATACCACCTGCGATTACT | GGTTCAGGAT c.900
G P W L K Q D N R T L Y H L R L L | V Q D p.300
. . . . . . g.40290
AAGTTTGAGGTGCTGAATTACACAAGCATTCCTATCTTTCTCCCGGAAGTCACCATTGGA c.960
K F E V L N Y T S I P I F L P E V T I G p.320
. . . | 10 . . g.69237
GCTCATCAGACTGACCGTGTCTTACATCAGTTCAGAGAG | CTGCCGGGCCGCAAGTACAGC c.1020
A H Q T D R V L H Q F R E | L P G R K Y S p.340
. . . . g.69285
CCTGGGTACAACACCGAGGTGGGAGACAAGTGGATCTGGCTGAAGTGA c.1068
P G Y N T E V G D K W I W L K X p.355
. . . . . . g.69345
acgggccgccttctgctccagctgcatcacagtgatggccaagctgcatcagccgcactc c.*60
. . . . . . g.69405
tcctggacgccatatagctttaagatcgggggagggtaaataatgcaaaaattgcacagt c.*120
. . . . . . g.69465
ggaagaaggggtctcacaaaaagcaatccatcctgtagtataggtaatggagttggggga c.*180
. . . . . . g.69525
agcagcttccattctggatgtttggaaccctttagctttgttttggaatggcccaccatt c.*240
. . . . . . g.69585
ctcactggaaaacagtggtctgctgtgaaaggccagctctcggcagcccctgtggtttca c.*300
. . . . . . g.69645
gcgctgccgctctgtgtcattcaggttgtgcacattgtttttcttctgacttccagaaat c.*360
. . . . . . g.69705
aaaagtgtttccatgggaatttccccatcgtacgtctatgtgcgtgcgggcacgtcgaaa c.*420
. . . . . . g.69765
ctgcacacgtgcacacacgctgctctgggccctgtttggtgtggtgtggtttaattgagg c.*480
. . . . . . g.69825
cttacattatgctgaagagtttttctaaaggcctactgtatttattttagtaatgtgcta c.*540
. . . . . . g.69885
cattagagtagaaaaaataagaacgtgaagaagaaatagcaaaaggagaaaattaccaca c.*600
. . . . . . g.69945
gatttacagaacaatatgttttaagagagacgttgagaaagattcacgtggccgtcctca c.*660
. . . . . . g.70005
gcgtctcaaactcctttgaagggagatttgagcttaggctgttgatgacataagatgcaa c.*720
. . . . . . g.70065
aagcaaaataatatactctctttattacccagaaaatcaagttgccagtcaaaactgaga c.*780
. . . . . . g.70125
aatgagaaagaaaatcagatttctttattcatctctgttgaagcctagaaaaccaaaaca c.*840
. . . . . . g.70185
agctggttgtggttcagcatcatggtttaggaatcaagctgtcagttgtgagtcctactg c.*900
. . . . . . g.70245
aactgtgggttttccactgtaaagctccactgtgtccattaggaatcaggctgccagttg c.*960
. . . . . . g.70305
tgagtcctactgaactgtgggttttccactgtaaagctccactgtgtccaatatggtagc c.*1020
. . . . . . g.70365
tcctagccacatgtgggtattgaaatttaaatgagctaaaatgtaatagagtttaaaatt c.*1080
. . . . . . g.70425
gggttccttggttgcactggccatagttcaggcactccacagccgcctgtgggcagtagt c.*1140
. . . . . . g.70485
tccagtgctggtgcagaggacgatgctctgctccccgcggaagctctaccaggcctcgct c.*1200
. . . . . . g.70545
gctgcggagcatgcgaagaagatgcacactccttccctccttgcgtccgcctgccttttt c.*1260
. . . . . . g.70605
ccctctccccttccttccctccttctttcctcctccttccctcccttcctttcttccttc c.*1320
. . . . . . g.70665
catctgtccttgttttcctcccttcccttcctccctgcctctttccttccctccttctct c.*1380
. . . . . . g.70725
tccttccttccgtctgtccttgttttcctccctgcctctttccttccctccttctcttcc c.*1440
. . . . . . g.70785
ttccttccttccgtctgtccttgttttcctcccttcccttcctccctgcctccttccttg c.*1500
. . . . . . g.70845
ttttaagaatttgaaaataaagtttcccaggagttttgaattggagtcgagatttaagtg c.*1560
. . . . . . g.70905
gctgaagttttgcatttcactaggaaaccaacagctttaatcatgaaatgaaagcacagc c.*1620
. . . . . . g.70965
tgggcattgggccagtcacagagtgtcttttgctctgagcacttcacaaacccattgtgg c.*1680
. . . . . . g.71025
aggggaggaaagaaaaagaaagccatctttaattatcttagctgttcctaatgtctttgg c.*1740
. . . . . . g.71085
ctgcaaagagctagctgtttccttcaaccttggtggttgcacgggtagtgtcctcagcag c.*1800
. . . . . . g.71145
tgagagggcaggtctgccctgtggtcaggattgcccttgtgaggggcagagctctccaac c.*1860
. . . . . . g.71205
catgcagggctccgtgtcggcatggtgtggactcgggtgctctgatcatcccctgtgttt c.*1920
. . . . . . g.71265
gcgtctgaccctgtgtggttgcattcccttgatggagtgggaagtatgtaatttgtagtg c.*1980
. . . . . . g.71325
ctgaggacattcgtctgtttgattttctggtgttttcaatgacatgcatgttcagcagag c.*2040
. . . . . . g.71385
aaagatgaataaacactgtccaattcttctctccacatagaagcctcaagaagaggtgag c.*2100
. . . . . . g.71445
gagatgccccgatttccttatttcagagcagtacatgcgttcgtctcacgaaagctctta c.*2160
. . . . . . g.71505
caactaaaacaacagcaccaacaaaccaggatcaaaataatcgtgcattttccaggattc c.*2220
. . . . . . g.71565
catgttggacttctcagtgctttggagatcaggaaataatcatgctgttgcagcagtatg c.*2280
. . . . . . g.71625
gttttgtgtctggattttattcatacaggcatgtgtttacaggcatgagaattctgtatt c.*2340
. . . . . . g.71685
gaaaagaaagtccttgtttttttctaacgtatctttctgttccatcaactgttaaaacca c.*2400
. . . . . . g.71745
aattgttaagaacattgagcttcttaggagagattacatgcagctacttaggaccacctc c.*2460
. . . . . . g.71805
agcaaaatggagttgcctgggtagatagcagcagcagctcaccagccccacgctgccagg c.*2520
. . . . . . g.71865
ctgctggctgctgtccaccaggcagctgtggaacctccatgttctgcctaggtgttgtgg c.*2580
. . . . . . g.71925
caagaacagcagggaaacaggcggccgcctccaggccacaggtggacccagggaccttca c.*2640
. . . . . . g.71985
gttacgccgcttcaattgaattcgtggtggtttctctgctacagcagaagtggaagaagc c.*2700
. . . . . . g.72045
tcttgtcttgtttggcatttgtcccattttttggctaataattggctttgaatttctctg c.*2760
. . . . . . g.72105
tgccctgcttaccaattatagctttctggattggctgttcttagcagtgcaaatgtcaat c.*2820
. . . . . . g.72165
gcaaagaagcaagcaggcggctactttctgggaagaagcatagtccgtgctcacactgga c.*2880
. . . . . . g.72225
tataaatctgcaagatttgggggtttggcaaaataggggtggagggaaagctgccatggc c.*2940
. . . . . . g.72285
tgtcagaaattggggctttttgaagaaaagcttgtgtaggcatcagccactggctggcca c.*3000
. . . . . . g.72345
gaattccatgaatggaagcaggtgcccgagtgatctggggctttacatgtggatataaat c.*3060
. . . . . . g.72405
agaagccgggagcctgaggctttgctttaggaaaatcatgagccagaaaacagaggaggt c.*3120
. . . . . . g.72465
gattgtcagtagtcacctcacgccgctagtgttttctaatactctctcgaattgtcaaag c.*3180
. . . . . . g.72525
caaaggaccttataacagcaacacgtgtgtgactcgaagcagcgagcttcccttgggaaa c.*3240
. . . . . . g.72585
aggagcctcttctcagcagagggtcccagcctttctgtccttccccatcggaatgccagg c.*3300
. . . . . . g.72645
ctctgtgagtttggatgttggacattgccacctgaattccaggaggccggggagctccag c.*3360
. . . . . . g.72705
tgatggacttgtccccaaaagagtggtgctgttctcagagccataaatgttccactgaaa c.*3420
. . . . . . g.72765
gtgtctgtcccctggctcacgctggctgcgcttgcttgaaggaggctgatttaagggttc c.*3480
. . . . . . g.72825
taataggaagacaaatgaaactgtcaaattttatctttaagcatgtgagtaagtttgctc c.*3540
. . . . . . g.72885
attcgcttttactattgatgtatagttttaaaattcttaatttaaaaattattttaatag c.*3600
. . . . . . g.72945
taaatttttcacaagtgaacactttttatctttaaattaaaattctgaagctccctagtt c.*3660
. . . . . . g.73005
agttagatccaattgctggttacattttgggaagctctcattttagtgctatgtagtttc c.*3720
. . g.73031
attgaataaacatgtttttaatgaga c.*3746
(downstream sequence)
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