(used for variant description)
(last modified December 24, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_005324.3 in the H3F3B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering H3F3B transcript NM_005324.3.
(upstream sequence)
. g.5013
gagcgcagagcgg c.-121
. . . . . . g.5073
tttggtcgttcgttgggcggtgctggtttttcgctcgtcgactgcggctcttcctcgggc c.-61
. . . . . | 02 g.5605
agcggaagcggcgcggcggtcggagaagtggcctaaaacttcggcgttgg | gtgaaagaaa c.-1
. . . . . . g.5665
ATGGCCCGAACCAAGCAGACTGCTCGTAAGTCCACCGGTGGGAAAGCCCCCCGCAAACAG c.60
M A R T K Q T A R K S T G G K A P R K Q p.20
. . . . . . g.5725
CTGGCCACGAAAGCCGCCAGGAAAAGCGCTCCCTCTACCGGCGGGGTGAAGAAGCCTCAT c.120
L A T K A A R K S A P S T G G V K K P H p.40
| 03 . . . . . g.5868
CGCTACAG | GCCCGGGACCGTGGCGCTTCGAGAGATTCGTCGTTATCAGAAGTCGACCGAG c.180
R Y R | P G T V A L R E I R R Y Q K S T E p.60
. . . . . . g.5928
CTGCTCATCCGGAAGCTGCCCTTCCAGAGGTTGGTGAGGGAGATCGCGCAGGATTTCAAA c.240
L L I R K L P F Q R L V R E I A Q D F K p.80
. . . . | 04 . . g.6074
ACCGACCTGAGGTTTCAGAGCGCAGCCATCGGTGCGCTGCAG | GAGGCTAGCGAAGCGTAC c.300
T D L R F Q S A A I G A L Q | E A S E A Y p.100
. . . . . . g.6134
CTGGTGGGTCTGTTCGAAGATACCAACCTGTGTGCCATCCACGCTAAGAGAGTCACCATC c.360
L V G L F E D T N L C A I H A K R V T I p.120
. . . . . g.6185
ATGCCCAAAGACATCCAGTTGGCTCGCCGGATACGGGGAGAGAGAGCTTAA c.411
M P K D I Q L A R R I R G E R A X p.136
. . . . . . g.6245
gtgaaggcagtttttatggcgttttgtagtaaattctgtaaaatactttggtttaatttg c.*60
. . . . . . g.6305
tgactttttttgtaagaaattgtttataatatgttgcatttgtacttaagtcattccatc c.*120
. . . . . . g.6365
tttcactcaggatgaatgcgaaaagtgactgttcacagacctcagtgatgtgagcactgt c.*180
. . . . . . g.6425
tgctcaggagtgacaagttgctaatatgcagaagggatgggtgatacttcttgcttctca c.*240
. . . . . . g.6485
tgatgcatgtttctgtatgttaatgacttgttgggtagctattaaggtactagagttgat c.*300
. . . . . . g.6545
aaatgtgtacagggtccttttgcaataaaactggttatgacttgatccaagtgtttaaca c.*360
. . . . . . g.6605
attggggctgttaagtctgaccatacatcactgtgatagaatgtgggctttttcaagggt c.*420
. . . . . . g.6665
gaagatacaagtcttaaccacagtgtaacttacagtttcctttaaaaaaaaaaaaagtaa c.*480
. . . . . . g.6725
acctggcagctatagaatacactatgtgcatttataatagctattttatatattgtagta c.*540
. . . . . . g.6785
tcaacatttttaaattaaatgttttacattcacaagtggtggggagtcttgtcattaagg c.*600
. . . . . . g.6845
tgtgtgtaatttagagtccagttggttttcttctgactgcacttgttctcatagtagtaa c.*660
. . . . . . g.6905
aatgctatgcgcatttataccttgcataagtcctcattctaccacatgttaaccctctag c.*720
. . . . . . g.6965
ctgataatgcaaacactaactgggggattttatttataagggctctagaaaaaacgagtt c.*780
. . . . . . g.7025
attcacaccagcatcatcttaactaacattctgaactagttagtgcagcttttcattgtg c.*840
. . . . . . g.7085
ttgtgtggttggtctcataactaggttgagtttttctcctctgctgaggaaacagtaccg c.*900
. . . . . . g.7145
aagttctttttcttgtggcatttgtattataaaaacttggtgtgggggaggagcacaaaa c.*960
. . . . . . g.7205
ctccagcccactgaacctctgccaattaagatggtgttgggttaggttacatctggttac c.*1020
. . . . . . g.7265
tgtcctgggaaaatcatttttatagagatggccttccaagtggttttaaaatttactgaa c.*1080
. . . . . . g.7325
gtttttaggtcaattatgtatgttgactaaatttacaaataaacttgtttatccaactaa c.*1140
. . . . . . g.7385
gtgtccaaaacctaaattgaatgtactaagttttcacatgtcccattatctaggtccttg c.*1200
. . . . . . g.7445
tatactaatgttttgaacttagatcatttcaggtgttgtttggtggataaaggaaccttt c.*1260
. . . . . . g.7505
tatttataaagatactgtagaaagcatgtgaacagctctctgcttgattaagatgccata c.*1320
. . . . . . g.7565
atagtgctgtatttgcagtgtgggctaagacaaagtatattaataagcttttcagccccc c.*1380
. . . . . . g.7625
ccactcccgttccgtagtgtagaagcccacaggtgtagaactcagtcttaaacttcagta c.*1440
. . . . . . g.7685
tgaaaccagtttccttgtgcgatgatggccactaaagcatagtacgtggatgtcagtgag c.*1500
. . . . . . g.7745
acagcatgagagccagcagtcatcaaagcgttccacgtttgaagttagcaactgcttaaa c.*1560
. . . . . . g.7805
gttataccccattaaaattgctttctcaaaagtttgggttagtttcaaatgtgatatttt c.*1620
. . . . . . g.7865
ggagggaaggtaaagtaggtatctttcaggtcgtgataatgagctcctatgaaaggatgc c.*1680
. . . . . . g.7925
aatataatgacccgcttttctagaaagttcataatcagctctggaacaagcacacttgat c.*1740
. . . . . . g.7985
tcctcactgtgcttcagaatgagattaagatcagatgttggaacgtgctatgctgtagcg c.*1800
. . . . . . g.8045
tgtctggaaacaaagtacacaaacctggctacggtgatgagttagcttctgcttactacc c.*1860
. . . . . . g.8105
tgtgacaacccaagtgggtgacactagtgaaccttctccagtctgcaggctggcatagaa c.*1920
. . . . . . g.8165
ggctcttagattatattgggcagcttgcaatctgccgaagcagtgacttgcatttccaca c.*1980
. . . . . . g.8225
cttggcttgagcactcaacccagaaggcgaagatagcttttggttgtaggcggcttcctg c.*2040
. . . . . . g.8285
tatgggatatccctcggtaagggtaaaggagcagaggcaaaggagaaaagcagaagttgc c.*2100
. . . . . . g.8345
agctgatgcaggtatcctatgcccttgatggatgagactaaaataaaatttttgaagtta c.*2160
g.8346
a c.*2161
(downstream sequence)
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