(used for variant description)
(last modified March 24, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001039675.1 in the UNC45A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering UNC45A transcript NM_001039675.1.
(upstream sequence)
. . . . . g.5055
acttaacaaccgaagtaacccgcaatgcggaagggcgaggggattgcgagtcacc c.-781
. . . | 02 . . . g.8836
gagtttcccgcgcggcttgag | tcacggcctagaaagagagatgttggggttcccaggacc c.-721
. . . . . . g.8896
aggacagaggtggtagtgaactctcatgggcatccagagaaggtcaggccccttgctgac c.-661
. . . . . . g.8956
aggcctatctgtggggctactgctgctcttcagctgggtgacccttgtccagccaacctc c.-601
. | 03. . . . . g.9211
tctctcag | ctctggtccaccaccctcacttgtgccagaccacccgggatgtccatggccg c.-541
. . . . . . g.9271
tcactaccctggtttcttttgccctcgtctgtctgattctccagaggaagcctactgctg c.-481
. . . . . . g.9331
ccacctgcaggctgcagggggctcctgctgcacccgggctgaatttgaggccctgtacca c.-421
. . . . | 04 . g.9785
agtcaatctgtccgctcttccgcccccgcccatcctcag | gggcccaggcccgctcctagt c.-361
. . . . . . g.9845
gctgggcctctacaacctactggttgtgaccctgatgaccgtagacctcgtgcacttctg c.-301
. . . . . . g.9905
ctgcggtcggggccggagtctgggctggagccaccgcaggcctccctctgggtcctccgc c.-241
. . . . . . g.9965
cgcgagctccctgcaggtctctgcggggacagcttaggtgcgcccggagcttgcctgcac c.-181
. . . . . . g.10025
ctgcgatccagagccaagcgccccgcccctgcccgggcgcgctccctccttagccctgcc c.-121
. . . . . . g.10085
cctctctgaccccacctccgacgcaagagtggggcggggcagctgccggtggcgtcccga c.-61
. . . . . . g.10145
acccagactcgccccgccccagagactgcgcctgcgcgggcacgagacaacctctccgcg c.-1
| 05 . . . . . . g.10418
ATGACT | GCCAGCTCAGTGGAGCAGCTGCGGAAGGAGGGCAATGAGCTGTTCAAATGTGGA c.60
M T | A S S V E Q L R K E G N E L F K C G p.20
. . . . . . g.10478
GACTACGGGGGCGCCCTGGCGGCCTACACTCAGGCCCTGGGTCTGGACGCGACGCCCCAG c.120
D Y G G A L A A Y T Q A L G L D A T P Q p.40
. . . . | 06 . g.10778
GACCAGGCCGTTCTGCACCGGAACCGGGCCGCCTGCCACCTCAAGCTG | GAAGATTACGAC c.180
D Q A V L H R N R A A C H L K L | E D Y D p.60
. . | 07 . . . . g.11140
AAAGCAGAAACAGAGGCATCCAAAG | CCATTGAAAAGGATGGTGGGGATGTCAAAGCACTC c.240
K A E T E A S K A | I E K D G G D V K A L p.80
. . . . . . g.11200
TACCGGCGGAGCCAAGCCCTAGAGAAGCTGGGCCGCCTGGACCAGGCTGTCCTTGACCTG c.300
Y R R S Q A L E K L G R L D Q A V L D L p.100
. . . . . . g.11260
CAGAGATGTGTGAGCTTGGAGCCCAAGAACAAAGTTTTCCAGGAGGCCTTGCGGAACATC c.360
Q R C V S L E P K N K V F Q E A L R N I p.120
. . | 08 . . . . g.14590
GGGGGCCAGATTCAGGAGAAG | GTGCGATACATGTCCTCGACGGATGCCAAAGTGGAACAG c.420
G G Q I Q E K | V R Y M S S T D A K V E Q p.140
. . . . . | 09 . g.15132
ATGTTTCAGATACTGTTGGACCCAGAAGAGAAGGGCACTGAGAAAAAGCAAAAG | GCTTCT c.480
M F Q I L L D P E E K G T E K K Q K | A S p.160
. . . . . . g.15192
CAGAACCTGGTGGTGCTGGCCAGGGAGGATGCTGGAGCGGAGAAGATCTTCCGGAGTAAT c.540
Q N L V V L A R E D A G A E K I F R S N p.180
. . . . . . g.15252
GGGGTTCAGCTCTTGCAACGTTTACTGGACATGGGAGAGACTGACCTCATGCTGGCGGCT c.600
G V Q L L Q R L L D M G E T D L M L A A p.200
. . . . | 10 . . g.17275
CTGCGTACGCTGGTTGGCATTTGCTCTGAGCATCAGTCACGG | ACAGTGGCAACCCTGAGC c.660
L R T L V G I C S E H Q S R | T V A T L S p.220
. . . . . . g.17335
ATACTGGGAACTCGGCGAGTAGTCTCCATCCTGGGCGTGGAAAGCCAGGCTGTGTCCCTG c.720
I L G T R R V V S I L G V E S Q A V S L p.240
. . . . . . g.17395
GCTGCCTGCCACCTGCTGCAGGTTATGTTTGATGCCCTCAAGGAAGGTGTCAAAAAAGGC c.780
A A C H L L Q V M F D A L K E G V K K G p.260
. . . | 11 . . . g.17761
TTCCGAGGCAAAGAAGGTGCCATCATTGTGG | ATCCTGCCCGGGAGCTGAAGGTCCTCATC c.840
F R G K E G A I I V D | P A R E L K V L I p.280
. . . . . . g.17821
AGTAACCTCTTAGATCTGCTGACAGAGGTGGGGGTCTCTGGCCAAGGCCGAGACAATGCC c.900
S N L L D L L T E V G V S G Q G R D N A p.300
. . . . . . g.17881
CTGACCCTCCTGATTAAAGCGGTGCCCCGGAAGTCTCTCAAGGACCCCAACAACAGCCTC c.960
L T L L I K A V P R K S L K D P N N S L p.320
. . | 12 . . . . g.19750
ACCCTCTGGGTCATCGACCAAG | GTCTGAAAAAGATTTTGGAAGTGGGGGGCTCTCTACAG c.1020
T L W V I D Q G | L K K I L E V G G S L Q p.340
. . . . . . g.19810
GACCCTCCTGGGGAGCTCGCAGTGACCGCAAACAGCCGCATGAGCGCCTCTATTCTCCTC c.1080
D P P G E L A V T A N S R M S A S I L L p.360
. . . . . . g.19870
AGCAAGCTCTTTGATGACCTCAAGTGTGATGCGGAGAGGGAGAATTTCCACAGACTTTGT c.1140
S K L F D D L K C D A E R E N F H R L C p.380
. | 13 . . . . . g.21480
GAAAACTACATCAA | GAGCTGGTTTGAGGGCCAAGGGCTGGCCGGGAAGCTACGGGCCATC c.1200
E N Y I K | S W F E G Q G L A G K L R A I p.400
. . . . . . g.21540
CAGACGGTGTCCTGCCTCCTGCAGGGCCCATGTGACGCTGGCAACCGGGCCTTGGAGCTG c.1260
Q T V S C L L Q G P C D A G N R A L E L p.420
. . . . . . g.21600
AGCGGTGTCATGGAGAGTGTGATTGCTCTGTGTGCCTCTGAGCAGGAGGAGGAGCAGCTG c.1320
S G V M E S V I A L C A S E Q E E E Q L p.440
. . . . . . g.21660
GTGGCCGTGGAGGCTCTGATCCATGCAGCCGGCAAGGCTAAGCGGGCCTCATTCATCACT c.1380
V A V E A L I H A A G K A K R A S F I T p.460
. . . . . . g.21720
GCCAATGGTGTCTCGCTGCTGAAGGACCTATATAAGTGCAGCGAGAAGGACAGCATCCGC c.1440
A N G V S L L K D L Y K C S E K D S I R p.480
. | 14 . . . . . g.22661
ATCCGGGCGCTAGTG | GGACTCTGTAAGCTCGGTTCGGCTGGAGGGACTGACTTCAGCATG c.1500
I R A L V | G L C K L G S A G G T D F S M p.500
. . . . . | 15 . g.22972
AAGCAGTTTGCTGAAGGCTCCACTCTCAAACTGGCTAAGCAGTGTCGAAA | GTGGCTGTGC c.1560
K Q F A E G S T L K L A K Q C R K | W L C p.520
. . . . . . g.23032
AATGACCAGATCGACGCAGGCACTCGGCGCTGGGCAGTGGAGGGCCTGGCTTACCTGACC c.1620
N D Q I D A G T R R W A V E G L A Y L T p.540
. . . . . . g.23092
TTTGATGCCGACGTGAAGGAAGAGTTTGTGGAGGATGCGGCTGCTCTGAAAGCTCTGTTC c.1680
F D A D V K E E F V E D A A A L K A L F p.560
. | 16 . . . . . g.23522
CAGCTCAGCAGG | TTGGAGGAGAGGTCAGTGCTCTTTGCGGTGGCCTCAGCGCTGGTGAAC c.1740
Q L S R | L E E R S V L F A V A S A L V N p.580
. . . . . . g.23582
TGCACCAACAGCTATGACTACGAGGAGCCCGACCCCAAGATGGTGGAGCTGGCCAAGTAT c.1800
C T N S Y D Y E E P D P K M V E L A K Y p.600
. . . | 17 . . . g.24163
GCCAAGCAGCATGTGCCCGAGCAGCACCCCAAG | GACAAGCCAAGCTTCGTGCGGGCTCGG c.1860
A K Q H V P E Q H P K | D K P S F V R A R p.620
. . . . . . g.24223
GTGAAGAAGCTGCTGGCAGCGGGTGTGGTGTCGGCCATGGTGTGCATGGTGAAGACGGAG c.1920
V K K L L A A G V V S A M V C M V K T E p.640
. . . . | 18 . . g.24493
AGCCCTGTGCTGACCAGTTCCTGCAGAGAGCTGCTCTCCAG | GGTCTTCTTGGCTTTAGTG c.1980
S P V L T S S C R E L L S R | V F L A L V p.660
. . . . | 19 . g.24986
GAAGAGGTAGAGGACCGAGGCACTGTGGTTGCCCAGGGAGGCGGCAGG | GCGCTGATCCCG c.2040
E E V E D R G T V V A Q G G G R | A L I P p.680
. . . . . . g.25046
CTGGCCCTGGAAGGCACGGACGTGGGGCAGACAAAGGCAGCCCAGGCCCTTGCCAAGCTC c.2100
L A L E G T D V G Q T K A A Q A L A K L p.700
. . . . | 20 . . g.25338
ACCATCACCTCCAACCCGGAGATGACCTTCCCTGGCGAGCGG | ATCTATGAGGTGGTCCGG c.2160
T I T S N P E M T F P G E R | I Y E V V R p.720
. . . . . . g.25398
CCCCTCGTCTCCCTGTTGCACCTCAACTGCTCAGGCCTGCAGAACTTCGAGGCGCTCATG c.2220
P L V S L L H L N C S G L Q N F E A L M p.740
. . . | 21 . . g.27771
GCCCTAACAAACCTGGCTGGGATCAGCGAGAGGCTCCG | GCAGAAGATCCTGAAGGAGAAG c.2280
A L T N L A G I S E R L R | Q K I L K E K p.760
. . . . . . g.27831
GCTGTGCCCATGATAGAAGGCTACATGTTTGAGGAGCATGAGATGATCCGCCGGGCAGCC c.2340
A V P M I E G Y M F E E H E M I R R A A p.780
. . . | 22 . . . g.27999
ACGGAGTGCATGTGTAACTTGGCCATGAGCAAGGAG | GTGCAGGACCTCTTCGAAGCCCAG c.2400
T E C M C N L A M S K E | V Q D L F E A Q p.800
. . . . . . g.28059
GGCAATGACCGACTGAAGCTGCTGGTGCTGTACAGTGGAGAGGATGATGAGCTGCTACAG c.2460
G N D R L K L L V L Y S G E D D E L L Q p.820
. . . . . . g.28119
CGGGCAGCTGCCGGGGGCTTGGCCATGCTTACCTCCATGCGGCCCACGCTCTGCAGCCGC c.2520
R A A A G G L A M L T S M R P T L C S R p.840
. | 23 . . . . . g.28327
ATTCCCCAAGTG | ACCACACACTGGCTGGAGATCCTGCAGGCCCTGCTTCTGAGCTCCAAC c.2580
I P Q V | T T H W L E I L Q A L L L S S N p.860
. . . . . . g.28387
CAGGAGCTGCAGCACCGGGGTGCTGTGGTGGTGCTGAACATGGTGGAGGCCTCGAGGGAG c.2640
Q E L Q H R G A V V V L N M V E A S R E p.880
. . . . . . g.28447
ATTGCCAGCACCCTGATGGAGAGTGAGATGATGGAGATCTTGTCAGTGCTAGCTAAGGGT c.2700
I A S T L M E S E M M E I L S V L A K G p.900
. . . . . . g.28507
GACCACAGCCCTGTCACAAGGGCTGCTGCAGCCTGCCTGGACAAAGCAGTGGAATATGGG c.2760
D H S P V T R A A A A C L D K A V E Y G p.920
. . . g.28537
CTTATCCAACCCAACCAAGATGGAGAGTGA c.2790
L I Q P N Q D G E X p.929
. . . . . . g.28597
gggggttgtccctgggcccaaggctcatgcacacgctacctattgtggcacggagagtaa c.*60
. . . . . . g.28657
ggacggaagcagctttggctggtggtggctggcatgcccaatactcttgcccatcctcgc c.*120
. . . . . . g.28717
ttgctgccctaggatgtcctctgttctgagtcagcggccacgttcagtcacacagccctg c.*180
. . . . . . g.28777
cttggccagcactgcctgcagcctcactcagaggggccctttttctgtactactgtagtc c.*240
. . . . . . g.28837
agctgggaatggggaaggtgcatcccaacacagcctgtggatcctggggcatctggaagg c.*300
. . . . . . g.28897
gcgcacacatcagcagcctcaccagctgtgagcctgctatcaggcctgcccctccaataa c.*360
. g.28914
aagtgtgtagaactcca c.*377
(downstream sequence)
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