(used for variant description)
(last modified February 9, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_001256715.1 in the DNAAF3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering DNAAF3 transcript NM_001256715.1.
(upstream sequence)
. . g.5024
attggccaaaagtttgtagagggc c.-181
. . . . . . g.5084
gggcctcgctcactctcattggtcagttgctcgctgtggtcccatcccacatgcttccat c.-121
. . . . . . g.5144
tgcttgattcctcgaaaagggcggggactctgggcagcggttgtggagtgccgcgggtcc c.-61
. . . . . . | 02 g.5309
acagtgctgcactgagcagagaggaaggggcgtcccgggatatttggaggataaag | ggtg c.-1
. . . . . . g.5369
ATGACCACACCTGCCGGCTCCGGCAGCGGCTTCGGCTCCGTGTCCTGGTGGGGCCTGTCC c.60
M T T P A G S G S G F G S V S W W G L S p.20
. . | 03 . . . . g.5757
CCGGCGCTGGACCTGCAGGCTGAAA | GTCCTCCTGTGGACCCAGACTCCCAGGCCGATACA c.120
P A L D L Q A E S | P P V D P D S Q A D T p.40
. . . . . . g.5817
GTGCACAGCAACCCCGAGCTAGATGTGCTGCTTCTGGGCTCTGTGGATGGACGGCACCTG c.180
V H S N P E L D V L L L G S V D G R H L p.60
. . . . | 04 . g.6271
CTGCGGACCCTGTCCCGAGCGAAGTTCTGGCCTCGCAGGAGGTTCAAC | TTCTTTGTGCTG c.240
L R T L S R A K F W P R R R F N | F F V L p.80
. . . . . . g.6331
GAGAATAATCTGGAAGCTGTGGCCCGACACATGCTGATCTTCAGCCTAGCCCTGGAGGAA c.300
E N N L E A V A R H M L I F S L A L E E p.100
. . | 05 . . . . g.9470
CCGGAGAAGATGGGGCTGCAAG | AGCGAAGCGAGACCTTCCTGGAAGTGTGGGGGAACGCG c.360
P E K M G L Q E | R S E T F L E V W G N A p.120
. . . . . . g.9530
CTGCTGCGCCCGCCAGTGGCCGCCTTCGTGCGTGCCCAGGCCGACCTGCTGGCGCACCTG c.420
L L R P P V A A F V R A Q A D L L A H L p.140
. . . . . . g.9590
GTCCCCGAGCCCGACCGCCTGGAGGAACAGCTGCCCTGGCTCAGCCTCCGCGCCCTCAAG c.480
V P E P D R L E E Q L P W L S L R A L K p.160
| 06 . . . . . . g.9957
| TTCCGCGAGCGGGATGCCCTGGAGGCCGTATTCCGCTTCTGGGCTGGCGGCGAGAAAGGG c.540
| F R E R D A L E A V F R F W A G G E K G p.180
. . . . . . g.10017
CCCCAGGCGTTCCCCATGAGCCGCCTCTGGGACTCGCGCCTGCGCCACTACCTGGGCTCC c.600
P Q A F P M S R L W D S R L R H Y L G S p.200
. . . . . . g.10077
CGCTACGACGCCCGGCGCGGTGTCAGCGACTGGGACCTGCGCATGAAGCTGCATGACCGC c.660
R Y D A R R G V S D W D L R M K L H D R p.220
| 07 . . . . . . g.10361
GGG | GCTCAAGTCATTCACCCCCAGGAGTTCCGACGCTGGCGGGACACAGGCGTCGCCTTT c.720
G | A Q V I H P Q E F R R W R D T G V A F p.240
. . . . . . g.10421
GAACTCAGGGACTCCAGCGCCTATCATGTGCCCAACCGGACCCTGGCGTCCGGTCGCCTC c.780
E L R D S S A Y H V P N R T L A S G R L p.260
| 08 . . . . . g.10586
CTGAGCTAC | CGTGGGGAGCGCGTGGCAGCGCGCGGGTACTGGGGGGACATCGCCACGGGG c.840
L S Y | R G E R V A A R G Y W G D I A T G p.280
. . . . . . g.10646
CCCTTCGTGGCCTTCGGCATCGAAGCGGACGACGAGAGCCTCCTGCGGACGAGCAACGGC c.900
P F V A F G I E A D D E S L L R T S N G p.300
. | 09 . . . . . g.10995
CAGCCAGTCAAG | ACGGCCGGGGAGATCACTCAACACAACGTGACGGAGCTGCTCCGCGAC c.960
Q P V K | T A G E I T Q H N V T E L L R D p.320
. . . . . . g.11055
GTGGCCGCCTGGGGGCGCGCGAGAGCCACCGGGGGGGACCTGGAGGAGCAGCAGCACGCG c.1020
V A A W G R A R A T G G D L E E Q Q H A p.340
. . | 10 . . . g.11741
GAGGGAAGCCCGGAGCCAGGGACTCCAG | CAGCCCCGACCCCGGAATCTTTCACCGTCCAC c.1080
E G S P E P G T P A | A P T P E S F T V H p.360
. . . . . . g.11801
TTCCTGCCGCTCGATTCTGCTCAGACTCTCCACCACAAGAGCTGCTACAACGGCCGATTC c.1140
F L P L D S A Q T L H H K S C Y N G R F p.380
. . | 11 . . . . g.12152
CAGCTCCTCTATGTGGCCTGTGG | TATGGTCCATCTTCTCATCCCTGAGCTTGGGGCCTGT c.1200
Q L L Y V A C G | M V H L L I P E L G A C p.400
. . . | 12 . . g.12295
GTGGCACCCGGAGGGAACTTGATTGTGGAATTAGCCCG | GTACCTGGTGGACGTGCGGCAG c.1260
V A P G G N L I V E L A R | Y L V D V R Q p.420
. . . . . . g.12355
GAGCAGCTGCAGGGATTCAACACCCGGGTCAGGGAGCTAGCTCAGGCAGCTGGATTTGCT c.1320
E Q L Q G F N T R V R E L A Q A A G F A p.440
. . . . . . g.12415
CCACAGACCGGGGCCAGGCCTTCAGAGACCTTCGCACGTTTCTGCAAGTCCCAGGAATCA c.1380
P Q T G A R P S E T F A R F C K S Q E S p.460
. . . . . . g.12475
GCTCTGGGCAACACTGTCCCAGCTGTGGAACCCGGAACTCCGCCCCTTGACATCCTGGCC c.1440
A L G N T V P A V E P G T P P L D I L A p.480
. . . . . . g.12535
CAGCCTCTTGAAGCCAGCAACCCAGCCCTTGAGGGCCTGACCCAGCCTCTGCAGGGTGGG c.1500
Q P L E A S N P A L E G L T Q P L Q G G p.500
. . . . . . g.12595
ACCCCACACTGTGAGCCCTGCCAGCTGCCCTCTGAGTCTCCAGGTTCACTCTCAGAGGTT c.1560
T P H C E P C Q L P S E S P G S L S E V p.520
. . . . . . g.12655
CTGGCTCAGCCTCAGGGGGCCTTGGCTCCGCCCAACTGTGAGTCAGACTCCAAAACTGGA c.1620
L A Q P Q G A L A P P N C E S D S K T G p.540
g.12661
GTCTGA c.1626
V X p.541
. . . . . . g.12721
cccaacccctagacaccccttatctccaacttccaaagtcaggttgtaggatgagaaccc c.*60
. . . . . . g.12781
gctgataccattctaagtccgctgctagagtcctcaattttattctaatcattcccactc c.*120
. . . . . . g.12841
agtacccgccacccccaccccgggagtgttggtagactttcaaattccatttctgagatt c.*180
. . . . . . g.12901
ctatggtctattcctagaattctagattgttctctcagaattccaaattccacttctgag c.*240
. . . . . . g.12961
gctctaagcccagcctaggatctgacactgagtctcaggcccttgactttggcccccttg c.*300
. . . . . . g.13021
ttcccaggcaccctgtggctgactaggggctggggtgtctcctcaccagggcctggtcag c.*360
. . . . g.13062
cacccagatggttcaagtaaagcaagttgtgtccacccttc c.*401
(downstream sequence)
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