(used for variant description)
(last modified May 30, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_002097.2 in the GTF3A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000013.10, covering GTF3A transcript NM_002097.2.
(upstream sequence)
. g.5014
atgcgcgatctccc c.-181
. . . . . . g.5074
ggagcatgcgcagcagcggcgccgacgcggggcggtgcctggtgaccgcgcgcgctcccg c.-121
. . . . . . g.5134
gaagtgtgccggcgtcgcgcgaaggttcagcagggagccgtgggccgggcgcgccggttc c.-61
. . . . . . g.5194
ccggcacgtgtctcggcacgtggcagcgcgcctggccctgggcttggaggcgccggcgcc c.-1
. . . . . . g.5254
CTGGATCCGCCGGCCGTGGTCGCCGAGTCGGTGTCGTCCTTGACCATCGCCGACGCGTTC c.60
L D P P A V V A E S V S S L T I A D A F p.20
. . . . . . g.5314
ATTGCAGCCGGCGAGAGCTCAGCTCCGACCCCGCCGCGCCCCGCGCTTCCCAGGAGGTTC c.120
I A A G E S S A P T P P R P A L P R R F p.40
. . . . . . g.5374
ATCTGCTCCTTCCCTGACTGCAGCGCCAATTACAGCAAAGCCTGGAAGCTTGACGCGCAC c.180
I C S F P D C S A N Y S K A W K L D A H p.60
. . | 02 . . . . g.7587
CTGTGCAAGCACACGGGGGAG | AGACCATTTGTTTGTGACTATGAAGGGTGTGGCAAGGCC c.240
L C K H T G E | R P F V C D Y E G C G K A p.80
. . . . . . g.7647
TTCATCAGGGACTACCATCTGAGCCGCCACATTCTGACTCACACAGGAGAAAAGCCGTTT c.300
F I R D Y H L S R H I L T H T G E K P F p.100
| 03 . . . . . . g.10384
GT | TTGTGCAGCCAATGGCTGTGATCAAAAATTCAACACAAAATCAAACTTGAAGAAACAT c.360
V | C A A N G C D Q K F N T K S N L K K H p.120
. . . | 04 . . g.11010
TTTGAACGCAAACATGAAAATCAACAAAAACAATATATA | TGCAGTTTTGAAGACTGTAAG c.420
F E R K H E N Q Q K Q Y I | C S F E D C K p.140
. . . . . . g.11070
AAGACCTTTAAGAAACATCAGCAGCTGAAAATCCATCAGTGCCAGCATACCAATGAACCT c.480
K T F K K H Q Q L K I H Q C Q H T N E P p.160
| 05 . . . . . g.13239
CTATTCAA | GTGTACCCAGGAAGGATGTGGGAAACACTTTGCATCACCCAGCAAGCTGAAA c.540
L F K | C T Q E G C G K H F A S P S K L K p.180
. . | 06 . . . . g.14633
CGACATGCCAAGGCCCACGAGG | GCTATGTATGTCAAAAAGGATGTTCCTTTGTGGCAAAA c.600
R H A K A H E G | Y V C Q K G C S F V A K p.200
. . . . | 07 . . g.15278
ACATGGACGGAACTTCTGAAACATGTGAGAGAAACCCATAAAG | AGGAAATACTATGTGAA c.660
T W T E L L K H V R E T H K E | E I L C E p.220
. . . . . . g.15338
GTATGCCGGAAAACATTTAAACGCAAAGATTACCTTAAGCAACACATGAAAACTCATGCC c.720
V C R K T F K R K D Y L K Q H M K T H A p.240
. . . . . . g.15398
CCAGAAAGGGATGTATGTCGCTGTCCAAGAGAAGGCTGTGGAAGAACCTATACAACTGTG c.780
P E R D V C R C P R E G C G R T Y T T V p.260
. . . . . . g.15458
TTTAATCTCCAAAGCCATATCCTCTCCTTCCATGAGGAAAGCCGCCCTTTTGTGTGTGAA c.840
F N L Q S H I L S F H E E S R P F V C E p.280
. . . | 08 . . . g.15616
CATGCTGGCTGTGGCAAAACATTTGCAATGAAA | CAAAGTCTCACTAGGCATGCTGTTGTA c.900
H A G C G K T F A M K | Q S L T R H A V V p.300
. . . | 09 . . . g.15916
CATGATCCTGACAAGAAGAAAATGAAGCTCAAA | GTCAAAAAATCTCGTGAAAAACGGAGT c.960
H D P D K K K M K L K | V K K S R E K R S p.320
. . . . . . g.15976
TTGGCCTCTCATCTCAGTGGATATATCCCTCCCAAAAGGAAACAAGGGCAAGGCTTATCT c.1020
L A S H L S G Y I P P K R K Q G Q G L S p.340
. . . . . . g.16036
TTGTGTCAAAACGGAGAGTCACCCAACTGTGTGGAAGACAAGATGCTCTCGACAGTTGCA c.1080
L C Q N G E S P N C V E D K M L S T V A p.360
. g.16054
GTACTTACCCTTGGCTAA c.1098
V L T L G X p.365
. . . . . . g.16114
gaactgcactgctttgtttaaaggactgcagaccaaggagcgagctttctctcagagcat c.*60
. . . . . g.16166
gcttttctttattaaaattactgatgcagaacatttgattccttatcatttc c.*112
(downstream sequence)
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