(used for variant description)
(last modified August 15, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_018188.3 in the ATAD3A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_053035.1, covering ATAD3A transcript NM_018188.3.
(upstream sequence)
g.5006
gtgtgt c.-121
. . . . . . g.5066
gtggcgcctgcgcagtggcggtgaccaccggctcgcggcgcgtggaggctgctcccagcc c.-61
. . . . . . g.5126
gcgcgcgagtcagactcgggtgggggtcccggcggcggtagcggcggcggcggtgcgagc c.-1
. . . . . . g.5186
ATGTCGTGGCTCTTCGGCATTAACAAGGGCCCCAAGGGTGAAGGCGCGGGGCCGCCGCCG c.60
M S W L F G I N K G P K G E G A G P P P p.20
. . . . . . g.5246
CCTTTGCCGCCCGCGCAGCCCGGGGCCGAGGGCGGCGGGGACCGCGGGTTGGGAGACCGG c.120
P L P P A Q P G A E G G G D R G L G D R p.40
. . . . . . g.5306
CCGGCGCCCAAGGACAAATGGAGCAACTTCGACCCCACCGGCCTGGAGCGCGCCGCCAAG c.180
P A P K D K W S N F D P T G L E R A A K p.60
. . | 02 . . . . g.8904
GCGGCGCGCGAGCTGGAGCACTCGC | GTTATGCCAAGGACGCCCTGAATCTGGCACAGATG c.240
A A R E L E H S R | Y A K D A L N L A Q M p.80
. . . . | 03 . . g.10042
CAGGAGCAGACGCTGCAGTTGGAGCAACAGTCCAAGCTCAAA | ATGCGGCTGGAAGCCCTG c.300
Q E Q T L Q L E Q Q S K L K | M R L E A L p.100
. . . . . . g.10102
AGCCTGCTGCACACACTAGTCTGGGCATGGAGTCTCTGCCGTGCCGGAGCCGTGCAGACA c.360
S L L H T L V W A W S L C R A G A V Q T p.120
. . . . . . g.10162
CAGGAGCGGCTGTCAGGCAGTGCCAGCCCTGAGCAAGTGCCAGCTGGTGAGTGCTGTGCT c.420
Q E R L S G S A S P E Q V P A G E C C A p.140
. . . . . . g.10222
CTGCAGGAGTATGAGGCCGCCGTGGAGCAGCTCAAGAGCGAGCAGATCCGGGCGCAGGCT c.480
L Q E Y E A A V E Q L K S E Q I R A Q A p.160
. . . . | 04 . g.10585
GAGGAGAGGAGGAAGACCCTGAGCGAGGAGACCCGGCAGCACCAGGCC | AGGGCCCAGTAT c.540
E E R R K T L S E E T R Q H Q A | R A Q Y p.180
. . . . | 05 . g.11790
CAAGACAAGCTGGCCCGGCAGCGCTACGAGGACCAACTGAAGCAGCAG | CAACTTCTCAAT c.600
Q D K L A R Q R Y E D Q L K Q Q | Q L L N p.200
. . . . . | 06 g.13000
GAGGAGAATTTACGGAAGCAGGAGGAGTCCGTGCAGAAGCAGGAAGCCATGCGGCGAG | CC c.660
E E N L R K Q E E S V Q K Q E A M R R A | p.220
. . . . . . g.13060
ACCGTGGAGCGGGAGATGGAGCTGCGGCACAAGAATGAGATGCTGCGAGTGGAGGCCGAG c.720
T V E R E M E L R H K N E M L R V E A E p.240
. . . . . . g.13120
GCCCGGGCGCGCGCCAAGGCCGAGCGGGAGAATGCAGACATCATCCGCGAGCAGATCCGC c.780
A R A R A K A E R E N A D I I R E Q I R p.260
. . . . | 07 . . g.13421
CTGAAGGCGGCCGAGCACCGTCAGACCGTCTTGGAGTCCATCAG | GACGGCTGGCACCTTG c.840
L K A A E H R Q T V L E S I R | T A G T L p.280
. . . . . | 08 . g.15607
TTTGGGGAAGGATTCCGTGCCTTTGTGACAGACTGGGACAAAGTGACAGCCACG | GTGGCT c.900
F G E G F R A F V T D W D K V T A T | V A p.300
. . . . . . g.15667
GGGCTGACGCTGCTGGCTGTTGGGGTCTACTCAGCCAAGAATGCCACGCTTGTCGCCGGC c.960
G L T L L A V G V Y S A K N A T L V A G p.320
. . . . . . g.15727
CGCTTCATCGAGGCTCGGCTGGGGAAGCCGTCCCTAGTGAGGGAGACGTCCCGCATCACG c.1020
R F I E A R L G K P S L V R E T S R I T p.340
. . . | 09 . . . g.16398
GTGCTTGAGGCGCTGCGGCACCCCATCCAG | GTCAGCCGGCGGCTCCTCAGTCGACCCCAG c.1080
V L E A L R H P I Q | V S R R L L S R P Q p.360
. . | 10. . . . g.16729
GACGCGCTGGAGGGTGTTGTGCTCAGT | CCCAGCCTGGAAGCACGGGTGCGCGACATCGCC c.1140
D A L E G V V L S | P S L E A R V R D I A p.380
. . . . . . g.16789
ATAGCAACAAGGAACACCAAGAAGAACCGCAGCCTGTACAGGAACATCCTGATGTACGGG c.1200
I A T R N T K K N R S L Y R N I L M Y G p.400
. . . | 11 . . . g.17157
CCACCAGGCACCGGGAAGACGCTGTTTGCCAAG | AAACTCGCCCTGCACTCAGGCATGGAC c.1260
P P G T G K T L F A K | K L A L H S G M D p.420
. . . . . . g.17217
TACGCCATCATGACAGGCGGGGACGTGGCCCCCATGGGGCGGGAAGGCGTGACCGCCATG c.1320
Y A I M T G G D V A P M G R E G V T A M p.440
. . . | 12 . . g.18119
CACAAGCTCTTTGACTGGGCCAATACCAGCCGGCGCGG | CCTCCTGCTCTTTGTGGATGAA c.1380
H K L F D W A N T S R R G | L L L F V D E p.460
. . . | 13 . . . g.19348
GCGGACGCCTTCCTTCGGAAGCGAGCCACC | GAGAAGATAAGCGAGGACCTCAGGGCCACA c.1440
A D A F L R K R A T | E K I S E D L R A T p.480
. . . . | 14 . . g.20571
CTGAACGCCTTCCTGTACCGCACGGGCCAGCACAGCAACAA | GTTCATGCTGGTCCTGGCC c.1500
L N A F L Y R T G Q H S N K | F M L V L A p.500
. . . . . . g.20631
AGCAACCAACCAGAGCAGTTCGACTGGGCCATCAATGACCGCATCAATGAGATGGTCCAC c.1560
S N Q P E Q F D W A I N D R I N E M V H p.520
. . . . . . g.20691
TTCGACCTGCCAGGGCAGGAGGAACGGGAGCGCCTGGTGAGAATGTATTTTGACAAGTAT c.1620
F D L P G Q E E R E R L V R M Y F D K Y p.540
. . | 15 . . . g.22111
GTTCTTAAGCCGGCCACAGAAGGAAAGCA | GCGCCTGAAGCTGGCCCAGTTTGACTACGGG c.1680
V L K P A T E G K Q | R L K L A Q F D Y G p.560
. . . . . . g.22171
AGGAAGTGCTCGGAGGTCGCTCGGCTGACGGAGGGCATGTCGGGCCGGGAGATCGCTCAG c.1740
R K C S E V A R L T E G M S G R E I A Q p.580
. | 16 . . . . g.26825
CTGGCCGTGTCCTGGCAG | GCCACGGCGTATGCCTCCGAGGACGGGGTCCTGACCGAGGCC c.1800
L A V S W Q | A T A Y A S E D G V L T E A p.600
. . . . . . g.26885
ATGATGGACACCCGCGTGCAAGATGCTGTCCAGCAGCACCAGCAGAAGATGTGCTGGCTG c.1860
M M D T R V Q D A V Q Q H Q Q K M C W L p.620
. . . . g.26930
AAGGCGGAAGGGCCTGGGCGTGGGGACGAGCCCTCCCCATCCTGA c.1905
K A E G P G R G D E P S P S X p.634
. . . . . . g.26990
gtccacagggagatccacagctcacggagcctggccgcggacccctcccacccctgcctt c.*60
. . . . . . g.27050
gccggcccctgcacatttaggatatgctcctgggtggggactgggctgtgcccagggcct c.*120
. . . . . . g.27110
ctgtcccccaggatgtcttgtggtgcgggtcggccgttctgccccccagggcaccccctg c.*180
. . . . . . g.27170
ttgtaggcactggctagggaggggcaggcctccttcctgcccctcgagacactcttggga c.*240
. . . . . . g.27230
gatgcattttccgtctggctcacagggggagggtgaggctttgcaccccagcccctgccc c.*300
. . . . . . g.27290
aggccactgtgagggtgggtgctggctgagcccccggggcagcaggagccaggcaggtga c.*360
. . . . . . g.27350
tgtctttgttctcggctcccacagcagagccaggtgagggggcgcctgccagggccagac c.*420
. . . . . . g.27410
ccaggtggggcagcctgaaccctgcttccccctgtggccggcatgccccgatctttcaca c.*480
. . . . . . g.27470
cactggtgaccctgagagaggagggaggagggaacctggcgggggtgtctgaggccgcac c.*540
. . . . . . g.27530
tgtcagctggccggtccaagcctgtggctggagctggggtctgtttacctaataaagtcc c.*600
. g.27545
cacaggtgcctcatt c.*615
(downstream sequence)
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