(used for variant description)
(last modified February 8, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_173654.1 in the EOGT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering EOGT transcript NM_173654.1.
(upstream sequence)
. . . . g.5045
gccgtctcctccgcctcctcctcggtagttcacggctgccccggc c.-361
. | 02 . . . . . g.5879
tccag | gcctgtggaaatcgaatcaagggtttctggagtggagtgattccagctgctttga c.-301
. . . . . . g.5939
gctgaaggaaaagtagcctggccagtaaagcgtccgtgtgctggaggagtgcagccaccc c.-241
. . . . . . g.5999
atcccggcgggccttgcaggacgaccgacaccaggaaggctttgtgccaggcccagcagc c.-181
. . . . . . g.6059
cacccccagccgccttatgcaagtgggtacatgccctcgccagacgccagctttctgatc c.-121
. . . . . | 03 g.6642
tgcgtctttagattttttccatcgcctaagcgttacttctccactgatcg | gttttagaga c.-61
. . . . . | 04 . g.8777
cctgaaacatcacagaagcttctgagtggttctgaagattcaagag | gtttgcaggttgct c.-1
. . . . . . g.8837
ATGTTAATGTTGTTTGTCTTTGGAGTCTTACTTCATGAAGTCTCACTGAGTGGTCAGAAT c.60
M L M L F V F G V L L H E V S L S G Q N p.20
. . . . . . g.8897
GAAGCTCCTCCTAATACTCACAGCATTCCAGGCGAACCTCTGTATAACTATGCCAGCATC c.120
E A P P N T H S I P G E P L Y N Y A S I p.40
. . . . . . g.8957
CGCTTGCCAGAGGAGCACATTCCCTTCTTTTTGCACAACAATAGGCATATTGCCACTGTC c.180
R L P E E H I P F F L H N N R H I A T V p.60
. . . | 05 . . . g.10125
TGTAGGAAAGACTCTCTTTGTCCATATAAG | AAACACCTAGAGAAGCTAAAGTACTGCTGG c.240
C R K D S L C P Y K | K H L E K L K Y C W p.80
. . . . . . g.10185
GGTTATGAGAAATCCTGCAAACCAGAGTTCAGGTTTGGTTACCCAGTTTGCAGCTATGTC c.300
G Y E K S C K P E F R F G Y P V C S Y V p.100
. | 06 . . . . . g.10851
GACATGGGATG | GACGGACACTCTTGAGTCAGCTGAGGACATATTTTGGAAACAAGCTGAC c.360
D M G W | T D T L E S A E D I F W K Q A D p.120
. . . . . . g.10911
TTTGGATATGCCAGAGAGAGGCTGGAGGAGATGCATGTGCTCTGTCAGCCTAAGGAAACG c.420
F G Y A R E R L E E M H V L C Q P K E T p.140
| 07 . . . . . . g.13449
| AGTGACTCAAGTCTGGTGTGTTCCCGTTATCTTCAGTACTGCAGAGCAACCAATCTCTAT c.480
| S D S S L V C S R Y L Q Y C R A T N L Y p.160
. . . | 08 . . . g.14166
CTTGATTTAAGAAACATCAAGAGAAATCATGACAG | ATTTAAGGAGGACTTTTTCCAGAGT c.540
L D L R N I K R N H D R | F K E D F F Q S p.180
. . . . . . g.14226
GGTGAAATTGGAGGGCACTGTAAACTTGACATCCGTACATTGACGTCTGAAGGTCAGCGC c.600
G E I G G H C K L D I R T L T S E G Q R p.200
. . | 09 . . . . g.16949
AAAAGCCCTCTGCAGTCATG | GTTTGCTGAGCTACAAAGCTATACTCAGCTCAACTTCAGA c.660
K S P L Q S W | F A E L Q S Y T Q L N F R p.220
. . . . . . g.17009
CCTATAGAAGATGCTAAATGTGACATTGTCATTGAAAAACCAACATATTTCATGAAATTA c.720
P I E D A K C D I V I E K P T Y F M K L p.240
| 10. . . . . . g.20562
GATGCAG | GTGTTAACATGTATCACCACTTCTGTGATTTCATCAATCTTTATATTACTCAG c.780
D A G | V N M Y H H F C D F I N L Y I T Q p.260
. . . . . | 11 . g.31119
CACGTTAATAACTCATTCAGTACTGACGTGTACATCGTGATGTGGGACACC | GATGGAAAA c.840
H V N N S F S T D V Y I V M W D T | D G K p.280
. . . . . . g.31179
ATTCGAGTCACCATTCTTGCACGGAGCACAGAATACCGGAAAATCCTTAACCAAAATGAG c.900
I R V T I L A R S T E Y R K I L N Q N E p.300
| 12 . . . . . . g.35811
| CTTGTAAATGCACTGAAAACAGTATCTACATTTGAAGTCCAGATTGTTGATTACAAGTAT c.960
| L V N A L K T V S T F E V Q I V D Y K Y p.320
| 13 . . . . . . g.38894
AG | AGAACTTGGGTTTTTAGATCAACTAAGGATCACACACAACACGGACATATTTATTGGA c.1020
R | E L G F L D Q L R I T H N T D I F I G p.340
. . . . . . g.38954
ATGCATGGAGCTGGTCTGACCCATTTACTTTTCCTTCCAGACTGGGCTGCTGTATTTGAA c.1080
M H G A G L T H L L F L P D W A A V F E p.360
| 14 . . . . . . g.40246
CT | GTACAACTGTGAAGATGAACGCTGTTACTTAGACTTGGCCAGGCTGAGAGGCGTTCAC c.1140
L | Y N C E D E R C Y L D L A R L R G V H p.380
. . . . | 15 . . g.40874
TACATCACTTGGCGACGGCAGAACAAAGTCTTTCCTCAGGATAAG | GGCCACCATCCAACC c.1200
Y I T W R R Q N K V F P Q D K | G H H P T p.400
. . . . . . g.40934
CTGGGGGAGCACCCGAAGTTCACCAACTACTCTTTCGATGTAGAAGAATTTATGTATCTT c.1260
L G E H P K F T N Y S F D V E E F M Y L p.420
. . . . . . g.40994
GTCCTTCAGGCTGCAGACCACGTATTGCAACACCCAAAGTGGCCATTTAAGAAGAAACAT c.1320
V L Q A A D H V L Q H P K W P F K K K H p.440
. g.41006
GATGAGCTATAA c.1332
D E L X p.443
. . . . . . g.41066
atatgctgagtctgtttgcaaaaagagagtgtttaaacactccaacacccagacttagaa c.*60
. . . . . . g.41126
ttaaatcagtaaagcaatctgttatttcctatccccgaattaccttttctatgccaaaac c.*120
. . . . . . g.41186
ataccttcaggatattgttatgtgttgtatagatgttaagtgtttcatgtggtttttgtg c.*180
. . . . . . g.41246
tcattgctatttatcaatagcaataattttgcactgaaaactttttatagttcaaaaatt c.*240
. . . . . . g.41306
aagcatggactccccagtatactttaactttctttctttctttttttttttttggagaca c.*300
. . . . . . g.41366
gagtctcactgtcacccaggctggagtgcagtggcatgatctcagtttatgcaacttctg c.*360
. . . . . . g.41426
cctccccaggttcaagcgattcttttgcctcagccacctgactagctgggattgcagcct c.*420
. . . . . . g.41486
gcaccaccacacctggctaaatttttgttgttgtcgttgagatacagtttcactctgtca c.*480
. . . . . . g.41546
cccaggctggagtgcagtggcatgatctcagctcactgcaacctctgccttctggattca c.*540
. . . . . . g.41606
agtgattcttgtgccttagcctcccaagtagctgggattacaggcgtgcaccaccacgcc c.*600
. . . . . . g.41666
cagttgatttttgtatttttgatagagacggagtttcaccatgttggccaggctggtctc c.*660
. . . . . . g.41726
gaactctgggttcaagaaatcctcccaccttgcctcccaaagtgctgggattacaggtgt c.*720
. . . . . . g.41786
gagccaccacgcatggccctgaactttctctttttaggaataccaaagttttcaactttt c.*780
. . . . . . g.41846
tcagctttagaatttgtaaatatttttgtagaatatcatatgactgtaattccagagtgt c.*840
. . . . . . g.41906
tccaacttgtttatgatatatttgggtaaatttacaactgttcttttatttgccataatc c.*900
. . . . . . g.41966
tggttataacactgtttgtggtaggaaaggaaaacatgcaaaacatacacacacacacac c.*960
. . . . . . g.42026
acacacacacacacacgcagagttgtgattctcagtaccaagctataggaccatgttata c.*1020
. . . . . . g.42086
gatcagcgtttagtcacctccaggttatatgcatcgagaacctgaataaatcatgccact c.*1080
. . . . . . g.42146
atattaatttatattacatgtttcatatttaaatcatgttttcctaaaatgtagcaacta c.*1140
. . . . . . g.42206
catgtgataaaagcaaattagaacattctgtaggactgtcttgcataccttctgtctggt c.*1200
. . . . . . g.42266
ttccactgattccttcttagccatggagagcatttgtgattaattaatttatatatgaaa c.*1260
. . . . . . g.42326
taatggtttccattttatgcgagtatttgtaactgcatataccagtgcgtgtgcgtctac c.*1320
. . . . . . g.42386
ctctgtcagcatgaaagtattccagtctttaatttcaaaaacttcaaattagcctcatga c.*1380
. . . . . . g.42446
agagaatttttccctgtgaaaagtaagaccaagaaaaaacaaactaaagacatgtgactt c.*1440
. . . . . . g.42506
attcaatgaaagtgaaaaagaagctctaaaacagtgtcattgattaaaaagaatatctgg c.*1500
. . . . . . g.42566
aatgtagccccactctttgagtgggattcatttcttactgcttatgaactttcaatttag c.*1560
. . . . . . g.42626
tagtcagaaaccatggatttattttactgcacaatgtgaagtttacattttattaacact c.*1620
. . . . . . g.42686
tgagtagtctgatttagagactagttacttctattttttaaaataatggagtaacaaatt c.*1680
. . . . . . g.42746
acagaatagctaaataattttttaaaaatattttacagttgtaaaaaatatccatcagaa c.*1740
. . . . . . g.42806
aaatgacacacaaaacaaaatatctggacctttacagaagacgtttgctgacccccactt c.*1800
. . . . . . g.42866
taaaggattggaacagtcttctagaattgaggaatatttattaaaatacctgtaaagaaa c.*1860
. . . . . . g.42926
atagtgaatcactgtagcaatggctttgattcagaccttaaaatcacataagaagaatta c.*1920
. . . . . . g.42986
caacatgttatggatttttaagtggcaggtattgtaactgttttttgtgtgcaaaatact c.*1980
. . . . . . g.43046
gagtaaccactgggaaaatatttcagatgaaagggatgacaaaagcatgttgcgctttgc c.*2040
. . . . . . g.43106
atcagcaaggcattgacttctgaaaaaatgatctgaaaaaagtttcaccgtttgtcttct c.*2100
. . . . . . g.43166
tacctcattttaagaagcatgtgaaaatgggatactatagactactgagaatttcagaaa c.*2160
. . . . . . g.43226
ttgagaacaatttcataataaaacggctatatttgaagagagaatacattttatataaac c.*2220
. . . . . . g.43286
aggaaaatacatttgacactttatggaattttatgagactttttgtgggaacagaaggtc c.*2280
. . . . . . g.43346
ttcaaattgtaaaatgtaaagattgctctttttattaagtctttaacagggatgtatttc c.*2340
. . . . . . g.43406
attgtatgttttgggtatggctttggaataaatcattttatattttatttgaatatcaga c.*2400
g.43407
a c.*2401
(downstream sequence)
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