(used for variant description)
(last modified February 14, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_153255.4 in the MCM9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering MCM9 transcript NM_153255.4.
(upstream sequence)
. . . . g.5047
tccatccggaagagccgccggggcagggaagttgaggcggtgcgcgg c.-241
. . . . . . g.5107
cccggcgtcggtcgagagcgcaggcccggcagagccgcaggcgctaggccgcccgacaca c.-181
. . . . . . g.5167
gcccgcgcgtccccgcggccggtggcgcctcgagcggccacgtgcacgcgcgcactccgc c.-121
. . . . . . g.5227
ctcaccagccttcttgcgccggagacgaacccgctgcctggctggagctctctgggccct c.-61
. . . . . | 02 . g.8439
tcggcctcgggagcaacgcgttcccggcgacttctgacacagcca | ttacctagattcaag c.-1
. . . . . . g.8499
ATGAATAGCGATCAAGTTACACTGGTTGGTCAAGTGTTTGAGTCATATGTTTCGGAATAC c.60
M N S D Q V T L V G Q V F E S Y V S E Y p.20
. . . . . . g.8559
CATAAGAATGATATTCTTCTAATCTTGAAGGAAAGGGATGAAGATGCTCATTACCCAGTT c.120
H K N D I L L I L K E R D E D A H Y P V p.40
. . . . . . g.8619
GTGGTTAATGCCATGACTCTGTTTGAGACCAACATGGAAATCGGGGAATATTTCAACATG c.180
V V N A M T L F E T N M E I G E Y F N M p.60
. . . . . . g.8679
TTCCCCAGTGAAGTGCTTACAATTTTTGATAGTGCACTGCGAAGGTCAGCCTTGACAATT c.240
F P S E V L T I F D S A L R R S A L T I p.80
. . . . . . g.8739
CTCCAGTCCCTTTCTCAGCCTGAGGCTGTTTCCATGAAACAGAATCTTCATGCCAGGATA c.300
L Q S L S Q P E A V S M K Q N L H A R I p.100
| 03 . . . . . . g.16091
TCAG | GTTTGCCTGTCTGTCCTGAGCTGGTGAGGGAACACATACCTAAAACCAAGGATGTG c.360
S G | L P V C P E L V R E H I P K T K D V p.120
. . . . . . g.16151
GGACACTTTTTATCTGTCACTGGGACAGTGATTCGAACAAGTCTGGTGAAGGTTCTGGAG c.420
G H F L S V T G T V I R T S L V K V L E p.140
. . . . . . g.16211
TTTGAGCGGGATTACATGTGTAACAAATGCAAGCATGTGTTTGTGATCAAGGCTGACTTT c.480
F E R D Y M C N K C K H V F V I K A D F p.160
. . . . . . g.16271
GAGCAGTATTACACCTTTTGCCGGCCATCCTCGTGTCCCAGCTTGGAGAGCTGTGATTCC c.540
E Q Y Y T F C R P S S C P S L E S C D S p.180
. . . . . . g.16331
TCTAAATTCACTTGCCTCTCAGGCTTGTCTTCGTCTCCAACCAGGTGTAGAGATTACCAG c.600
S K F T C L S G L S S S P T R C R D Y Q p.200
. . | 04 . . . . g.18115
GAAATCAAAATTCAGGAACAG | GTTCAAAGGCTATCTGTTGGAAGTATTCCACGATCTATG c.660
E I K I Q E Q | V Q R L S V G S I P R S M p.220
. . . . | 05 . . g.22418
AAGGTTATTCTGGAAGATGACTTAGTGGATAGTTGCAAATCTG | GTGATGACCTCACTATT c.720
K V I L E D D L V D S C K S G | D D L T I p.240
. . . . . . g.22478
TACGGGATTGTAATGCAACGGTGGAAGCCCTTTCAGCAAGATGTGCGCTGTGAAGTGGAG c.780
Y G I V M Q R W K P F Q Q D V R C E V E p.260
. . . . . . g.22538
ATAGTCCTGAAAGCAAATTACATCCAAGTAAATAATGAGCAGTCCTCAGGGATCATCATG c.840
I V L K A N Y I Q V N N E Q S S G I I M p.280
. . . . . . g.22598
GATGAGGAGGTCCAAAAGGAATTCGAAGATTTTTGGGAATACTATAAGAGCGATCCCTTT c.900
D E E V Q K E F E D F W E Y Y K S D P F p.300
| 06 . . . . . . g.26798
GCAG | GAAGGAATGTAATATTGGCTAGCTTGTGCCCTCAAGTGTTTGGAATGTATCTAGTA c.960
A G | R N V I L A S L C P Q V F G M Y L V p.320
. . . . . . g.26858
AAGCTTGCTGTGGCCATGGTGCTGGCTGGTGGGATTCAAAGGACTGATGCTACAGGAACA c.1020
K L A V A M V L A G G I Q R T D A T G T p.340
. | 07 . . . . . g.28443
CGGGTCAGAG | GAGAATCTCATCTTTTATTGGTTGGGGATCCTGGCACAGGGAAATCTCAG c.1080
R V R G | E S H L L L V G D P G T G K S Q p.360
. . . . . . g.28503
TTCCTCAAATATGCAGCAAAGATTACACCAAGATCTGTGCTGACCACAGGAATTGGATCT c.1140
F L K Y A A K I T P R S V L T T G I G S p.380
. . . g.28539
ACTAGTGCAGGTATTGTATGTGACAATTTCAAGTAA c.1176
T S A G I V C D N F K X p.391
. . . . . . g.28599
tttaacattacttcagaagttaacacaatggttttttctaatgaaaaactacctataata c.*60
. . . . . . g.28659
ggataaatttcaagctaatttttgagttaccactaaaaatggaaggaaatatgcaatgtt c.*120
. . . . . . g.28719
attttggtagctctaagaaaatatcttgcaagctccaccttcactttgcatcttagtttt c.*180
. . . . . . g.28779
gaacaatcctattcaattttctcattctctagtgattaccttcatacttttatgcaggaa c.*240
. . . . . . g.28839
aaagtccgtatcatctggcattttatcaagactcagcaactggaatgttaaactaaagag c.*300
. . . . . . g.28899
ggggatatttcactttaccaagtagatagatggtatagagcttaaggcattttcatgctc c.*360
. . . . . . g.28959
ataaatctgataggcaacagtagctcctactgaaatttcttaggtagggaatgtttatta c.*420
. . . . . . g.29019
atatttggaaaatatacttccatcattgcaatgtggagcttcattcataagttgtaatga c.*480
. . . . . . g.29079
ttctttagcaagtacacttaaaagcctttgcaggtagaatgtcaagatttgattataaat c.*540
. . . . . . g.29139
aaagtgacccagggaatttagaaaaaaattattttaaaaaatatgtttgatgctattttg c.*600
. . . . . . g.29199
tatttttacagttttgattgggtaatgtttctgttcttctgaaaacagacccttggcttc c.*660
. . . . . . g.29259
acacattttaaaaatgtttgctacttgttaagggagtcagattaacttccattgggctaa c.*720
. . . . . . g.29319
tgaatgctcaaatttctaatgagaaactaacactttaaaatttatcatacaacagaaaat c.*780
. . . . . . g.29379
ggccaattaatggtcctgtataagtggaaaactgttaaggaggtctcaggttttgaaata c.*840
. . . . . . g.29439
taactcaacagtatattaaccattgacaagaatggatttttggaattgagaagggtagac c.*900
. . . . . . g.29499
aaacttcaggatactaggcaagaatatataaagaatatttcccatgcgttttaaatccgt c.*960
. . . . . . g.29559
atgacccagtgttctagagttctgtataaaatgataccaacaacaaataaagatgcttcc c.*1020
g.29566
caagtaa c.*1027
(downstream sequence)
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