(used for variant description)
(last modified January 5, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_000035.3 in the ALDOB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012387.1, covering ALDOB transcript NM_000035.3.
(upstream sequence)
. . g.5022
atctgtcttatttggcagctgc c.-61
. . . . . | 02 g.9893
tgcctcacccacagcttttgatatctaggaggactcttctctcccaaact | acctgtcacc c.-1
. . . . . . g.9953
ATGGCCCACCGATTTCCAGCCCTCACCCAGGAGCAGAAGAAGGAGCTCTCAGAAATTGCC c.60
M A H R F P A L T Q E Q K K E L S E I A p.20
. . . . . | 03 . g.10822
CAGAGCATTGTTGCCAATGGAAAGGGGATCCTGGCTGCAGATGAATCTGTAG | GTACCATG c.120
Q S I V A N G K G I L A A D E S V G | T M p.40
. . . . . . g.10882
GGGAACCGCCTGCAGAGGATCAAGGTGGAAAACACTGAAGAGAACCGCCGGCAGTTCCGA c.180
G N R L Q R I K V E N T E E N R R Q F R p.60
. . . . . . g.10942
GAAATCCTCTTCTCTGTGGACAGTTCCATCAACCAGAGCATCGGGGGTGTGATCCTTTTC c.240
E I L F S V D S S I N Q S I G G V I L F p.80
. . . . . . g.11002
CACGAGACCCTCTACCAGAAGGACAGCCAGGGAAAGCTGTTCAGAAACATCCTCAAGGAA c.300
H E T L Y Q K D S Q G K L F R N I L K E p.100
. . | 04 . . . . g.12293
AAGGGGATCGTGGTGGGAATCAAG | TTAGACCAAGGAGGTGCTCCTCTTGCAGGAACAAAC c.360
K G I V V G I K | L D Q G G A P L A G T N p.120
. | 05 . . . . g.13179
AAAGAAACCACCATTCAAG | GGCTTGATGGCCTCTCAGAGCGCTGTGCTCAGTACAAGAAA c.420
K E T T I Q G | L D G L S E R C A Q Y K K p.140
. . . . . . g.13239
GATGGTGTTGACTTTGGGAAGTGGCGTGCTGTGCTGAGGATTGCCGACCAGTGTCCATCC c.480
D G V D F G K W R A V L R I A D Q C P S p.160
. . . . . . g.13299
AGCCTCGCTATCCAGGAAAACGCCAACGCCCTGGCTCGCTACGCCAGCATCTGTCAGCAG c.540
S L A I Q E N A N A L A R Y A S I C Q Q p.180
| 06 . . . . . . g.14202
| AATGGACTGGTACCTATTGTTGAACCAGAGGTAATTCCTGATGGAGACCATGACCTGGAA c.600
| N G L V P I V E P E V I P D G D H D L E p.200
. . | 07 . . . . g.15189
CACTGCCAGTATGTTACTGAGAAG | GTCCTGGCTGCTGTCTACAAGGCCCTGAATGACCAT c.660
H C Q Y V T E K | V L A A V Y K A L N D H p.220
. . . . . . g.15249
CATGTTTACCTGGAGGGCACCCTGCTAAAGCCCAACATGGTGACTGCTGGACATGCCTGC c.720
H V Y L E G T L L K P N M V T A G H A C p.240
. . . . . . g.15309
ACCAAGAAGTATACTCCAGAACAAGTAGCTATGGCCACCGTAACAGCTCTCCACCGTACT c.780
T K K Y T P E Q V A M A T V T A L H R T p.260
. | 08 . . . . g.15779
GTTCCTGCAGCTGTTCCTG | GCATCTGCTTTTTGTCTGGTGGCATGAGTGAAGAGGATGCC c.840
V P A A V P G | I C F L S G G M S E E D A p.280
. . . . . . g.15839
ACTCTCAACCTCAATGCTATCAACCTTTGCCCTCTACCAAAGCCCTGGAAACTAAGTTTC c.900
T L N L N A I N L C P L P K P W K L S F p.300
. . . . . . g.15899
TCTTATGGACGGGCCCTGCAGGCCAGTGCACTGGCTGCCTGGGGTGGCAAGGCTGCAAAC c.960
S Y G R A L Q A S A L A A W G G K A A N p.320
. . . | 09 . . g.18897
AAGGAGGCAACCCAGGAGGCTTTTATGAAGCGGGCCATG | GCTAACTGCCAGGCGGCCAAA c.1020
K E A T Q E A F M K R A M | A N C Q A A K p.340
. . . . . . g.18957
GGACAGTATGTTCACACGGGTTCTTCTGGGGCTGCTTCCACCCAGTCGCTCTTCACAGCC c.1080
G Q Y V H T G S S G A A S T Q S L F T A p.360
. g.18972
TGCTATACCTACTAG c.1095
C Y T Y X p.364
. . . . . . g.19032
ggtccaatgcccgccagcctagctccagtgcttctagtaggagggctgaaagggagcaac c.*60
. . . . . . g.19092
ttttcctccaatcctggaaattcgacacaattagatttgaactgctggaaatacaacaca c.*120
. . . . . . g.19152
tgttaaatcttaagtacaagggggaaaaaataaatcagttattgaaacataaaaatgaat c.*180
. . . . . . g.19212
accaaggacctgatcaaatttcacacagcagtttccttgcaacactttcagctccccatg c.*240
. . . . . . g.19272
ctccagaatacccacccaagaaaataataggctttaaaacaatatcggctcctcatccaa c.*300
. . . . . . g.19332
agaacaactgctgattgaaacacctcattagctgagtgtagagaagtgcatcttatgaaa c.*360
. . . . . . g.19392
cagtcttagcagtggtaggttgggaaggagatagctgcaaccaaaaaagaaataaatatt c.*420
. . . . . . g.19452
ctataaaccttcagctgctatcgggtttcacttttctgctcttgctgtccaaagactcag c.*480
. . . . . . g.19512
tgtatttcattacttttgactctactagacatgactgggtttcaacagtaaaggtcttca c.*540
. . . . . . g.19572
actcttgctagtcattggaatcaagccgcaaaattttaaaaactgagatgctcaggccac c.*600
. . . . . . g.19632
accccagctcaattaaatcagaaaccctagacttgggatcctctaactattagatttctt c.*660
. . . . . . g.19692
aaagctccctcagtaattccaatgtacagtcaagtttgagaactaccaatctaaatttca c.*720
. . . . . . g.19752
agtttgagggtatttgaaaattaaagccattcacaatacgaagccagctaaaaatgtaga c.*780
. . . . . . g.19812
atgattttgagcaacttgtggagtataataagagaattaatgtgacttcaatgcttggag c.*840
. . . . . . g.19872
cattcttgttcaagtggcccaggtttggtgaaacaggactaccttgtcatctgcacgtcc c.*900
. . . . . . g.19932
aggcatatttcgtagttttgcagtaaataatattcacataatgatactgtattgactttc c.*960
. . . . . . g.19992
aattttcagaattaacctatagttacagcacttaagacaaccagagttataaaagagaat c.*1020
. . . . . . g.20052
ttaaatattataactttggacaatataaaagtgatgatttaactgacagaagctaggaaa c.*1080
. . . . . . g.20112
tataagggggaggagaagtggaagaaagcaaagagagtcaggaatactacttaaaactga c.*1140
. . . . . . g.20172
tgggttaagaaatagtgctttaattctatttaagtaataaaagaaatggatgtaaatcat c.*1200
. . . . g.20221
aaaaatatatatctaaaattaaaatattgatggtagtatgctaaatttc c.*1249
(downstream sequence)
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