(used for variant description)
(last modified July 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018344.5 in the SLC29A3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_017066.1, covering SLC29A3 transcript NM_018344.5. The sequence was taken from NG_017066.1, covering SLC29A3 transcript NM_018344.5.
(upstream sequence)
. . . . . g.5057
aagcccagtggtcctggccgtgcgccggaggcagcggcggcgtggcgcagcggcgac c.-1
| 02 . . . . . . g.8562
A | TGGCCGTTGTCTCAGAGGACGACTTTCAGCACAGTTCAAACTCCACCTACAGAACCACA c.60
M | A V V S E D D F Q H S S N S T Y R T T p.20
. . . . . . g.8622
AGCAGCAGTCTCCGAGCTGACCAGGAGGCACTGCTTGAGAAGCTGCTGGACCGCCCGCCC c.120
S S S L R A D Q E A L L E K L L D R P P p.40
. . . . . . g.8682
CCTGGCCTGCAGAGGCCCGAGGACCGCTTCTGTGGCACATACATCATCTTCTTCAGCCTG c.180
P G L Q R P E D R F C G T Y I I F F S L p.60
. . . . . . g.8742
GGCATTGGCAGTCTACTGCCATGGAACTTCTTTATCACTGCCAAGGAGTACTGGATGTTC c.240
G I G S L L P W N F F I T A K E Y W M F p.80
. . . . . . g.8802
AAACTCCGCAACTCCTCCAGCCCAGCCACCGGGGAGGACCCTGAGGGCTCAGACATCCTG c.300
K L R N S S S P A T G E D P E G S D I L p.100
| 03 . . . . . . g.30016
| AACTACTTTGAGAGCTACCTTGCCGTTGCCTCCACCGTGCCCTCCATGCTGTGCCTGGTG c.360
| N Y F E S Y L A V A S T V P S M L C L V p.120
. . | 04 . . . . g.37346
GCCAACTTCCTGCTTGTCAACAG | GGTTGCAGTCCACATCCGTGTCCTGGCCTCACTGACG c.420
A N F L L V N R | V A V H I R V L A S L T p.140
. . . . . . g.37406
GTCATCCTGGCCATCTTCATGGTGATAACTGCACTGGTGAAGGTGGACACTTCCTCCTGG c.480
V I L A I F M V I T A L V K V D T S S W p.160
. . . . . . g.37466
ACCCGTGGCTTTTTTGCGGTCACCATTGTCTGCATGGTGATCCTCAGCGGTGCCTCCACT c.540
T R G F F A V T I V C M V I L S G A S T p.180
. . . . . . g.37526
GTCTTCAGCAGCAGCATCTACGGCATGACCGGCTCCTTTCCTATGAGGAACTCCCAGGCA c.600
V F S S S I Y G M T G S F P M R N S Q A p.200
. | 05 . . . . . g.41878
CTGATATCAG | GAGGAGCCATGGGCGGGACGGTCAGCGCCGTGGCCTCATTGGTGGACTTG c.660
L I S G | G A M G G T V S A V A S L V D L p.220
. . . . . . g.41938
GCTGCATCCAGTGATGTGAGGAACAGCGCCCTGGCCTTCTTCCTGACGGCCACTGTCTTC c.720
A A S S D V R N S A L A F F L T A T V F p.240
. . . . . | 06 . g.47708
CTCGTGCTCTGCATGGGACTCTACCTGCTGCTGTCCAGGCTGGAGTATGCCAG | GTACTAC c.780
L V L C M G L Y L L L S R L E Y A R | Y Y p.260
. . . . . . g.47768
ATGAGGCCTGTTCTTGCGGCCCATGTGTTTTCTGGTGAAGAGGAGCTTCCCCAGGACTCC c.840
M R P V L A A H V F S G E E E L P Q D S p.280
. . . . . . g.47828
CTCAGTGCCCCTTCGGTGGCCTCCAGATTCATTGATTCCCACACACCCCCTCTCCGCCCC c.900
L S A P S V A S R F I D S H T P P L R P p.300
. . . . . . g.47888
ATCCTGAAGAAGACGGCCAGCCTGGGCTTCTGTGTCACCTACGTCTTCTTCATCACCAGC c.960
I L K K T A S L G F C V T Y V F F I T S p.320
. . . . . . g.47948
CTCATCTACCCCGCCATCTGCACCAACATCGAGTCCCTCAACAAGGGTTCGGGCTCACTG c.1020
L I Y P A I C T N I E S L N K G S G S L p.340
. . . . . . g.48008
TGGACCACCAAGTTTTTCATCCCCCTCACTACCTTCCTCCTGTACAACTTTGCTGACCTA c.1080
W T T K F F I P L T T F L L Y N F A D L p.360
. . . . . . g.48068
TGTGGCCGGCAGCTCACCGCCTGGATCCAGGTGCCAGGGCCCAATAGCAAGGCGCTCCCA c.1140
C G R Q L T A W I Q V P G P N S K A L P p.380
. . . . . . g.48128
GGGTTCGTGCTCCTCCGGACCTGCCTCATCCCCCTCTTCGTGCTCTGTAACTACCAGCCC c.1200
G F V L L R T C L I P L F V L C N Y Q P p.400
. . . . . . g.48188
CGCGTCCACCTGAAGACTGTGGTCTTCCAGTCCGATGTGTACCCCGCACTCCTCAGCTCC c.1260
R V H L K T V V F Q S D V Y P A L L S S p.420
. . . . . . g.48248
CTGCTGGGGCTCAGCAACGGCTACCTCAGCACCCTGGCCCTCCTCTACGGGCCTAAGATT c.1320
L L G L S N G Y L S T L A L L Y G P K I p.440
. . . . . . g.48308
GTGCCCAGGGAGCTGGCTGAGGCCACGGGAGTGGTGATGTCCTTTTATGTGTGCTTGGGC c.1380
V P R E L A E A T G V V M S F Y V C L G p.460
. . . . g.48356
TTAACACTGGGCTCAGCCTGCTCTACCCTCCTGGTGCACCTCATCTAG c.1428
L T L G S A C S T L L V H L I X p.475
. . . . . . g.48416
aagggaggacacaaggacattggtgcttcagagcctttgaagatgagaagagagtgcagg c.*60
. . . . . . g.48476
agggctgggggccatggaggaaaggcctaaagtttcacttggggacagagagcagagcac c.*120
. . . . . . g.48536
actcgggcctcatccctcccaagatgccagtgagccacgtccatgcccattccgtgcaag c.*180
. . . . . . g.48596
gcagatattccagtcatattaacagaacactcctgagacagttgaagaagaaatagcaca c.*240
. . . . . . g.48656
aatcaggggtactcccttcacagctgatggttaacattccaccttctttctagcccttca c.*300
. . . . . . g.48716
aagatgctgccagtgttcgccctagagttattacaaagccagtgccaaaacccagccatg c.*360
. . . . . . g.48776
ggctctttgcaacctcccagctgcgctcattccagctgacagcgagatgcaagcaaatgc c.*420
. . . . . . g.48836
tcagctctccttaccctgaaggggtctccctggaatggaagtcccctggcatggtcagtc c.*480
. . . . . . g.48896
ctcaggcccaagactcaagtgtgcacagacccctgtgttctgtgggtgaacaactgccca c.*540
. . . . . . g.48956
ctaaccagactggaaaacccagaaagatgggccttccatgaatgcttcattccagaggga c.*600
. . . . . . g.49016
ccagagggcctccctgtgcaagggatcaagcatgtctggcctgggttttcaaaaaaagag c.*660
. . . . . . g.49076
ggatcctcatgacctggtggtctatggcctgggtcaagatgagggtctttcagtgttcct c.*720
. . . . . . g.49136
gtttacaacatgtcaaagccattggttcaagggcgtaataaatacttgcgtattcaatgt c.*780
g.49138
aa c.*782
(downstream sequence)
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