(used for variant description)
(last modified November 10, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_013435.2 in the RAX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000018.9, covering RAX transcript NM_013435.2.
(upstream sequence)
g.5007
ctgggac c.-181
. . . . . . g.5067
taaggcggcagcgggctgagcgctcggccacccccagcgtgcgcagcccgggcgggcttc c.-121
. . . . . . g.5127
gcccgcggagcttgacctagggtcgggacccgtcgggttgcaccgccgcactcgggaaga c.-61
. . . . . . g.5187
cccggcttcgagcctctcctctccgtctccaaagcgccctcccgcctcccggcgctcccc c.-1
. . . . . . g.5247
ATGCACCTGCCGGGCTGCGCGCCAGCCATGGCCGACGGGAGCTTCTCGCTTGCCGGCCAC c.60
M H L P G C A P A M A D G S F S L A G H p.20
. . . . . . g.5307
CTGCTCCGCAGCCCGGGCGGGAGCACCTCGCGACTTCACAGCATCGAGGCCATCCTGGGG c.120
L L R S P G G S T S R L H S I E A I L G p.40
. . . . . . g.5367
TTTACCAAGGACGACGGGATCCTCGGCACCTTCCCGGCGGAGCGGGGCGCCCGGGGCGCG c.180
F T K D D G I L G T F P A E R G A R G A p.60
. . . . . . g.5427
AAGGAGCGGGATAGGAGGCTGGGCGCGCGGCCCGCCTGCCCCAAGGCGCCCGAGGAAGGC c.240
K E R D R R L G A R P A C P K A P E E G p.80
. . . . | 02 . g.5790
TCCGAGCCCTCCCCGCCGCCAGCCCCGGCGCCCGCCCCCGAGTACGAAG | CCCCTCGACCC c.300
S E P S P P P A P A P A P E Y E A | P R P p.100
. . . . . . g.5850
TACTGCCCCAAGGAGCCCGGGGAGGCACGGCCGAGCCCAGGGCTGCCCGTCGGGCCAGCC c.360
Y C P K E P G E A R P S P G L P V G P A p.120
. . . . . . g.5910
ACCGGCGAAGCGAAACTGTCAGAGGAGGAACAGCCCAAGAAAAAGCATCGGCGGAACCGC c.420
T G E A K L S E E E Q P K K K H R R N R p.140
. . . . . . g.5970
ACGACTTTCACCACGTACCAGCTGCATGAGCTGGAGCGCGCGTTCGAGAAGTCCCACTAC c.480
T T F T T Y Q L H E L E R A F E K S H Y p.160
. . . . . . g.6030
CCGGACGTGTACAGCCGCGAGGAGCTGGCCGGCAAGGTCAACCTACCAGAGGTCCGGGTC c.540
P D V Y S R E E L A G K V N L P E V R V p.180
| 03 . . . . . . g.8949
CAG | GTGTGGTTCCAGAACCGACGGGCTAAGTGGCGGCGGCAGGAGAAGCTGGAAGTGTCC c.600
Q | V W F Q N R R A K W R R Q E K L E V S p.200
. . . . . . g.9009
TCCATGAAGCTGCAGGACTCGCCCCTCCTCTCCTTCAGCCGCTCCCCGCCCTCCGCGACG c.660
S M K L Q D S P L L S F S R S P P S A T p.220
. . . . . . g.9069
CTGTCGCCCCTCGGGGCGGGCCCGGGCAGCGGTGGCGGGCCGGCTGGGGGCGCGCTGCCG c.720
L S P L G A G P G S G G G P A G G A L P p.240
. . . . . . g.9129
CTGGAGTCCTGGCTCGGGCCGCCGCTGCCGGGCGGGGGCGCCACGGCGCTGCAGAGCCTG c.780
L E S W L G P P L P G G G A T A L Q S L p.260
. . . . . . g.9189
CCGGGCTTCGGGCCGCCGGCGCAGAGCCTGCCTGCCAGCTACACGCCACCGCCGCCGCCT c.840
P G F G P P A Q S L P A S Y T P P P P P p.280
. . . . . . g.9249
CCGCCCTTCCTGAACTCCCCGCCGTTGGGCCCCGGCCTGCAACCTCTCGCGCCGCCGCCG c.900
P P F L N S P P L G P G L Q P L A P P P p.300
. . . . . . g.9309
CCCTCCTACCCGTGCGGGCCCGGCTTCGGGGACAAGTTCCCGCTGGACGAGGCGGACCCG c.960
P S Y P C G P G F G D K F P L D E A D P p.320
. . . . . . g.9369
CGCAACAGCAGCATCGCGGCGCTGCGTCTGAAAGCCAAGGAGCACATCCAGGCCATCGGG c.1020
R N S S I A A L R L K A K E H I Q A I G p.340
. . g.9390
AAGCCGTGGCAGGCCCTCTAG c.1041
K P W Q A L X p.346
. . . . . . g.9450
gggcactggggaacgtcttgggatccgaccccgggccgaccgcaccgtacccgcatcctc c.*60
. . . . . . g.9510
tctcccagggacaacccccctccccagctcggcccctctttccctgtcgcctgcagccac c.*120
. . . . . . g.9570
ccgccaagcatagttcagggccacgcgcctgctcccgatgcacggggagaagggcgactt c.*180
. . . . . . g.9630
tcaggcctgaggagaggccctctggccgcctcaacgcacttcgcggacctcagccctgca c.*240
. . . . . . g.9690
gctggagggcaacaggctgccgggccccgctggccacgccgctcccatcaccgcaggcgc c.*300
. . . . . . g.9750
tggagcctccaggcccaaacaggctgaagctcctaaacttggccattcccaggaggcttg c.*360
. . . . . . g.9810
gagacccccagataaccataacagggaagcaggggaggcggaaaaatagagtttgagaaa c.*420
. . . . . . g.9870
cttttgtataagtagtttcaaactatttgagaggagaattaaagacatgcttgttttgtt c.*480
. . . . . . g.9930
tcgactctgtttaagcacgctcaggacttggggagaggagtgaatattggggtacgggag c.*540
. . . . . . g.9990
gagggtgcgttgacggacagggtgggtcagggaaagaggaggactgagaagaagctcagg c.*600
. . . . . . g.10050
gtttccttgtgaaaattctagggacacttcgctgcagcagagaatcgtccccattccgaa c.*660
. . . . . . g.10110
cgcttcggcggcctagaccagaggcgcccttccctggagccggcgtgcgcgcttggggtc c.*720
. . . . . . g.10170
cggagtggatggggctaaggctcagatgctagcgcgctcccagttcccccgctagcccca c.*780
. . . . . . g.10230
tagtccagcggcagctgatattttcaagtttgacttcaatagaaagcgtcaagaccacct c.*840
. . . . . . g.10290
tccctagggcgagagcgaagtgtcccccggcccctggcgtccccgctctcctaaggactc c.*900
. . . . . . g.10350
ctctcagttcaccaagcagatctccggttcggtgccagtccctaacacccaaggttgatc c.*960
. . . . . . g.10410
accagcggtacaagaactgaggcaaagagatgcttttccttttcggagccgcgagactct c.*1020
. . . . . . g.10470
ctaacctccccaactcgctccacactcgccaacccagagttcggtaaaaggcgcgtctgg c.*1080
. . . . . . g.10530
tgaggtgccgcgctcggagagtgtcctggagcgccctacgccaccgccccgagagctagt c.*1140
. . . . . . g.10590
tcttgcgggcgtgccctggacagtatctgcagttctttggcgccggctctagggcgagga c.*1200
. . . . . . g.10650
aggaatctcgaaatctcagcccgcttcacaatctcctgagactctctgaagaaggagagt c.*1260
. . . . . . g.10710
cccggactcccgcctgagcgtgctcgatatccaccgttgacactggaagctgggcgaccg c.*1320
. . . . . . g.10770
ccagcagaacctggatgcccgccaacaggtcctggcacggggggggggggggcgtccacc c.*1380
. . . . . . g.10830
ccacaacccccgtccctaagcgtgctttcaggatgatgcccccagagccttaattagcat c.*1440
. . . . . . g.10890
caactggctactgtctgtcggtcctgagcaaattagtgaagctcccagtcccctttcctc c.*1500
. . . . . . g.10950
gtctaaataaactctgtctctctggaaggtgggaaagatggaataagatcacctgtaaag c.*1560
. . . . . . g.11010
gctttgtggaaagtaccaagaccctggcatgacgcaatatggattgtaatcatcgtcccc c.*1620
. . . . . . g.11070
atttccccgaaattccctggctgttctccggttcctgaaaccgacttgggaaaaggatga c.*1680
. . . . . . g.11130
ccacgctggagctgggaatatgggaagcctcatcatagtttccagtcctttctctgcggg c.*1740
. . . . . . g.11190
tctaagaggctattgcataaccagggctgtgtacccctagacctccagatggtgccttgc c.*1800
. . . . . . g.11250
acacagtaggctgatcagtaaaaatgtactgaataaattattcccccccaagaggtaggg c.*1860
. . . . . . g.11310
agtaatatctgcacttttcctcacaaggatgtctccttgggggaggaggatggagcagcc c.*1920
. . . . g.11359
cgtgtgttatcaccttttagcaagaaaacaaaacaaaacaaaaccagaa c.*1969
(downstream sequence)
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