(used for variant description)
(last modified October 13, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_032656.3 in the DHX37 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering DHX37 transcript NM_032656.3.
(upstream sequence)
. . . g.5039
tctcacggccggagttggtggtctgggaacccacgtggg c.-61
. . . . . . g.5099
ctgggtttcggattgctctgctggtccggccgctggagcgcccaccctggcctagtcgcc c.-1
. . . . . . g.5159
ATGGGGAAGCTGCGCCGGCGCTACAACATCAAGGGGCGCCAGCAGGCGGGCCCCGGACCC c.60
M G K L R R R Y N I K G R Q Q A G P G P p.20
. . . . | 02 . . g.7870
TCGAAGGGCCCCCCCGAGCCGCCCCCCGTGCAGCTGGAACTGGAGG | ACAAGGACACGTTG c.120
S K G P P E P P P V Q L E L E D | K D T L p.40
. . . . . . g.7930
AAGGGAGTTGATGCAAGCAACGCGCTCGTTCTACCGGGGAAGAAGAAAAAGAAGACCAAA c.180
K G V D A S N A L V L P G K K K K K T K p.60
. . . . . . g.7990
GCCCCTCCCCTGTCGAAGAAGGAGAAGAAGCCTCTGACCAAGAAGGAGAAGAAAGTGCTG c.240
A P P L S K K E K K P L T K K E K K V L p.80
. . . | 03 . . . g.11522
CAGAAAATCTTAGAACAGAAGGAGAAAAAGAGCCAG | CGAGCAGAGATGCTACAGAAGCTG c.300
Q K I L E Q K E K K S Q | R A E M L Q K L p.100
. . . . . . g.11582
AGTGAAGTCCAGGCTTCCGAAGCTGAGATGAGACTCTTTTATACCACTTCCAAGCTAGGC c.360
S E V Q A S E A E M R L F Y T T S K L G p.120
. . | 04 . . . g.13314
ACTGGGAACCGCATGTATCACACCAAAGA | GAAGGCTGACGAGGTGGTAGCCCCGGGCCAG c.420
T G N R M Y H T K E | K A D E V V A P G Q p.140
. . . . . . g.13374
GAGAAGATCAGTAGCCTCAGCGGTGCCCACCGGAAGCGTCGCCGCTGGCCCTCAGCTGAG c.480
E K I S S L S G A H R K R R R W P S A E p.160
. . . . . . g.13434
GAGGAGGAGGAGGAGGAGGAGGAGTCGGAATCGGAGCTGGAGGAGGAGTCGGAGCTGGAC c.540
E E E E E E E E S E S E L E E E S E L D p.180
. . . . . . g.13494
GAGGACCCAGCTGCTGAGCCGGCTGAGGCTGGTGTGGGGACCACCGTGGCACCTCTGCCG c.600
E D P A A E P A E A G V G T T V A P L P p.200
. . . . . . g.13554
CCAGCTCCAGCACCCAGCAGTCAGCCCGTGCCGGCTGGGATGACTGTTCCTCCTCCTCCA c.660
P A P A P S S Q P V P A G M T V P P P P p.220
. . . . . . g.13614
GCTGCAGCCCCACCACTGCCCAGGGCCCTGGCTAAGCCCGCCGTCTTCATCCCCGTGAAC c.720
A A A P P L P R A L A K P A V F I P V N p.240
. | 05 . . . . g.16673
CGCTCCCCGGAAATGCAG | GAGGAACGGCTGAAGCTCCCAATTCTCTCCGAAGAACAAGTA c.780
R S P E M Q | E E R L K L P I L S E E Q V p.260
. . . . . . g.16733
ATCATGGAGGCTGTGGCCGAGCACCCCATCGTCATCGTGTGTGGTGAGACCGGCAGCGGG c.840
I M E A V A E H P I V I V C G E T G S G p.280
. . . . | 06. . g.18623
AAGACCACACAGGTGCCTCAGTTTCTCTATGAAGCAGGCTTCAGCAG | TGAAGACAGCATC c.900
K T T Q V P Q F L Y E A G F S S | E D S I p.300
. . . . . . g.18683
ATCGGTGTCACGGAGCCCCGCCGAGTGGCCGCCGTGGCCATGTCCCAGCGAGTGGCCAAG c.960
I G V T E P R R V A A V A M S Q R V A K p.320
. . | 07 . . . . g.21562
GAGATGAATCTGTCCCAGCG | GGTCGTCTCCTACCAGATCCGGTATGAAGGAAACGTGACA c.1020
E M N L S Q R | V V S Y Q I R Y E G N V T p.340
. . . . . | 08. g.22709
GAGGAGACCAGAATCAAGTTCATGACGGATGGTGTGCTGCTTAAAGAAATCCAGAAG | GAC c.1080
E E T R I K F M T D G V L L K E I Q K | D p.360
. . . . . . g.22769
TTCCTGCTGCTGCGGTACAAGGTGGTGATCATCGACGAGGCCCACGAGAGGAGCGTGTAC c.1140
F L L L R Y K V V I I D E A H E R S V Y p.380
. . . . . | 09 . g.25162
ACGGACATCCTCATCGGCCTCCTGTCCCGCATTGTGACTCTCCGGGCTAAG | AGGAACCTG c.1200
T D I L I G L L S R I V T L R A K | R N L p.400
. . . . . . g.25222
CCACTCAAGCTGCTCATCATGTCGGCCACGCTGCGGGTGGAGGACTTCACCCAGAACCCA c.1260
P L K L L I M S A T L R V E D F T Q N P p.420
. . . | 10 . . . g.25500
CGGCTCTTCGCCAAGCCGCCGCCGGTCATCAAG | GTGGAATCCAGGCAGTTCCCAGTGACT c.1320
R L F A K P P P V I K | V E S R Q F P V T p.440
. . . . . . g.25560
GTGCATTTCAACAAGCGGACACCGCTGGAAGACTACAGTGGCGAGTGCTTCCGGAAGGTC c.1380
V H F N K R T P L E D Y S G E C F R K V p.460
. . | 11 . . . g.26935
TGCAAGATCCACCGGATGCTGCCCGCAG | GTGGCATCCTGGTGTTCCTGACGGGGCAGGCT c.1440
C K I H R M L P A G | G I L V F L T G Q A p.480
. . . . . . g.26995
GAGGTGCATGCGCTGTGCCGCAGGCTCAGGAAGGCTTTCCCACCCTCCAGAGCCCGGCCA c.1500
E V H A L C R R L R K A F P P S R A R P p.500
| 12 . . . . . . g.27299
CAAG | AAAAGGACGACGATCAGAAAGACTCGGTGGAGGAAATGCGGAAGTTTAAGAAGTCA c.1560
Q E | K D D D Q K D S V E E M R K F K K S p.520
. . . | 13 . . . g.28339
AGGGCCAGGGCCAAGAAGGCGCGGGCTGAG | GTGCTGCCCCAGATCAACTTGGATCATTAC c.1620
R A R A K K A R A E | V L P Q I N L D H Y p.540
. . . . . . g.28399
TCGGTGTTACCGGCAGGCGAAGGCGATGAGGACAGGGAGGCAGAAGTGGATGAGGAAGAG c.1680
S V L P A G E G D E D R E A E V D E E E p.560
. . . . . | 14 . g.29120
GGGGCCCTGGACTCCGACCTCGATCTGGACCTGGGGGATGGCGGGCAAGATGGAG | GTGAG c.1740
G A L D S D L D L D L G D G G Q D G G | E p.580
. . . . . . g.29180
CAGCCGGATGCCTCCCTCCCGCTCCACGTGCTCCCGCTGTACTCTCTGCTGGCCCCAGAG c.1800
Q P D A S L P L H V L P L Y S L L A P E p.600
. | 15 . . . . . g.29543
AAGCAAGCACAG | GTCTTTAAGCCTCCACCGGAGGGGACTCGGTTGTGTGTTGTGGCCACC c.1860
K Q A Q | V F K P P P E G T R L C V V A T p.620
. . . . . . g.29603
AATGTGGCCGAGACGTCGCTTACCATCCCTGGCATCAAGTACGTGGTGGACTGTGGGAAG c.1920
N V A E T S L T I P G I K Y V V D C G K p.640
. . . . . . g.29663
GTCAAGAAACGCTACTACGACCGCGTCACTGGCGTATCCTCCTTCCGTGTCACCTGGGTC c.1980
V K K R Y Y D R V T G V S S F R V T W V p.660
. . . . . . g.29723
TCCCAGGCATCAGCTGACCAGCGAGCGGGCAGAGCAGGACGGACGGAGCCCGGCCACTGC c.2040
S Q A S A D Q R A G R A G R T E P G H C p.680
| 16 . . . . . . g.33753
TACAG | GCTGTATTCATCTGCGGTTTTTGGTGACTTCGAGCAGTTTCCTCCTCCAGAAATC c.2100
Y R | L Y S S A V F G D F E Q F P P P E I p.700
. . . . . | 17. g.36989
ACCCGGAGGCCTGTTGAAGACTTAATCCTTCAAATGAAGGCGCTCAACGTTGAAAAG | GTC c.2160
T R R P V E D L I L Q M K A L N V E K | V p.720
. . . . . . g.37049
ATCAACTTCCCCTTCCCGACGCCCCCCTCCGTGGAAGCCCTTCTTGCCGCCGAGGAGCTG c.2220
I N F P F P T P P S V E A L L A A E E L p.740
. . . . | 18 . . g.37258
TTGATCGCACTGGGTGCCCTGCAACCGCCCCAGAAAGCAGAAAG | GGTGAAGCAACTGCAG c.2280
L I A L G A L Q P P Q K A E R | V K Q L Q p.760
. . . . . . g.37318
GAGAACCGGCTGAGCTGCCCCATCACTGCGCTGGGCCGGACAATGGCCACATTCCCCGTG c.2340
E N R L S C P I T A L G R T M A T F P V p.780
. . . . . . g.37378
GCACCCCGCTACGCTAAGATGCTGGCACTGAGCCGACAACACGGCTGCCTGCCCTATGCC c.2400
A P R Y A K M L A L S R Q H G C L P Y A p.800
. . . . . | 19 . g.39917
ATCACCATCGTGGCCAGCATGACGGTGCGGGAGCTGTTTGAGGAGCTGGACAG | ACCAGCG c.2460
I T I V A S M T V R E L F E E L D R | P A p.820
. . . . . . g.39977
GCCAGTGACGAGGAGCTCACCAGGCTGAAGAGCAAGCGGGCCCGGGTGGCCCAGATGAAG c.2520
A S D E E L T R L K S K R A R V A Q M K p.840
. . . . . | 20 g.40127
AGGACCTGGGCAGGGCAGGGGGCTTCTCTGAAGCTCGGCGACCTCATGGTGCTGCTGG | GC c.2580
R T W A G Q G A S L K L G D L M V L L G | p.860
. . . . . . g.40187
GCCGTGGGAGCCTGTGAGTATGCCAGCTGCACACCCCAGTTTTGCGAAGCCAACGGGCTG c.2640
A V G A C E Y A S C T P Q F C E A N G L p.880
. . . . . | 21 . g.41556
CGGTACAAAGCCATGATGGAGATCCGGCGCCTGCGGGGCCAGCTGACCACCGCAG | TCAAT c.2700
R Y K A M M E I R R L R G Q L T T A V | N p.900
. . . . . . g.41616
GCCGTGTGCCCCGAGGCTGAGCTCTTCGTGGATCCCAAGATGCAGCCGCCCACCGAGAGC c.2760
A V C P E A E L F V D P K M Q P P T E S p.920
. . . . . . g.41676
CAGGTGACCTACCTGCGACAGATCGTGACGGCAGGCCTGGGGGACCACTTGGCCCGCAGG c.2820
Q V T Y L R Q I V T A G L G D H L A R R p.940
. . . . | 22 . g.43329
GTCCAGAGCGAGGAGATGCTGGAGGACAAGTGGAGGAACGCCTACAAG | ACCCCTCTCCTC c.2880
V Q S E E M L E D K W R N A Y K | T P L L p.960
. . . . . . g.43389
GACGACCCTGTCTTCATCCACCCCAGCTCCGTCCTTTTCAAAGAGCTCCCCGAGTTTGTG c.2940
D D P V F I H P S S V L F K E L P E F V p.980
. . . . | 23 . . g.43588
GTCTACCAGGAAATCGTGGAGACCACTAAGATGTACATGAAAG | GCGTCTCTAGCGTGGAG c.3000
V Y Q E I V E T T K M Y M K G | V S S V E p.1000
. . . . . . g.43648
GTCCAGTGGATCCCGGCCCTGCTGCCCTCTTACTGCCAGTTTGACAAGCCCCTGGAGGAA c.3060
V Q W I P A L L P S Y C Q F D K P L E E p.1020
. . . . . . g.43708
CCAGCCCCTACATACTGCCCCGAGCGGGGGCGGGTGCTGTGTCACCGGGCCAGCGTGTTC c.3120
P A P T Y C P E R G R V L C H R A S V F p.1040
| 24 . . . . . . g.43937
T | ATCGCGTGGGCTGGCCGCTCCCCGCCATCGAGGTGGATTTTCCAGAGGGGATTGACCGC c.3180
Y | R V G W P L P A I E V D F P E G I D R p.1060
. . . | 25 . . . g.44086
TACAAGCACTTTGCCCGGTTCCTGCTGGAAGGGCAG | GTCTTCCGCAAGCTGGCCTCATAC c.3240
Y K H F A R F L L E G Q | V F R K L A S Y p.1080
. . . . . | 26 . g.45950
CGGAGCTGTCTGCTGTCCAGCCCCGGCACCATGCTGAAGACGTGGGCCAG | GCTGCAGCCC c.3300
R S C L L S S P G T M L K T W A R | L Q P p.1100
. . . . . . g.46010
CGTACGGAGAGCCTTCTGCGAGCCCTGGTTGCAGAGAAGGCTGACTGCCATGAAGCCTTG c.3360
R T E S L L R A L V A E K A D C H E A L p.1120
. . | 27 . . . g.46266
CTGGCTGCTTGGAAGAAAAACCCCAAAT | ACCTGCTGGCTGAGTACTGTGAGTGGCTTCCA c.3420
L A A W K K N P K Y | L L A E Y C E W L P p.1140
. . . . . g.46320
CAGGCCATGCACCCCGATATCGAGAAAGCCTGGCCCCCCACCACTGTCCACTGA c.3474
Q A M H P D I E K A W P P T T V H X p.1157
. . . . . . g.46380
ccagaaacctggctgcagggccgaggactggtttggggactggagggctggcagcagcct c.*60
. . . . . . g.46440
gtcaccgtgcgaccgtgaccacctggcatgggcttcgtggcctgctctcaggaagtgggt c.*120
. . . . . . g.46500
caagccctgggaaccctcatccatgagagctcgatcccgtatgaagggtgctgccgcccg c.*180
. . . . . . g.46560
tgccatctggcccgggggtgactttttgaactgtttattatatggtggatgatgatttca c.*240
. . . . . . g.46620
tctcacgtgctggacgctgttctgttcagtgtgctctttggactacattagtcccctgtg c.*300
. . . . . . g.46680
gagcagcagggctggagatctctgcagtcccttccccgcccgccctgccagaaggccgag c.*360
. . . . . . g.46740
gaggcacgtggagggcctccttcctgcaattcttccctctccagagtcagggagggctgc c.*420
. . . . . . g.46800
ccagccctggcctcacagccgtcccagatgttaggtgagccactgagctctgtgttgacc c.*480
. . . . . . g.46860
ttgaggggcctggctgggggcccccaggctccatgccttcttgggagggtggccgccaac c.*540
. . . . . . g.46920
gcctttcctgtgttatggcaacagggagtgggcatctcatctgcctgtggtcagctctca c.*600
. . . . . . g.46980
gacggcagggagcggagctgacgttggctgtgcttggtcaccgctgccatgccgcagagg c.*660
. . . . . . g.47040
atgcgcctagctgggctggggccacacgactattatgttggccttgaacggggactgcag c.*720
. . . . . . g.47100
agccctcagtttgtctcccttgttcctctgtggctgaggtgggagggggagggtggggta c.*780
. . . . . . g.47160
ggtcccccagcaagaaagagggacaggagcaccccaggcaggaccaaggagtcgggaggc c.*840
. . . . . . g.47220
ccctgccttctgtcctccatggtgagggcacagatgtctccccagagcccagcgctggca c.*900
. . . . . . g.47280
gaatggattctgctcctggctttgcttctgcggcttcggtggagacagttatggaataaa c.*960
. g.47298
atgttccttgcacccaga c.*978
(downstream sequence)
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