(used for variant description)
(last modified November 25, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_003579.3 in the RAD54L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering RAD54L transcript NM_003579.3.
(upstream sequence)
. . . . . g.5051
gatacgacggcagcgcggcgggaggttcgattgacccggtcttggcgggtc c.-661
. . . . . . g.5111
ggtgagtcttggcggctgttaacgcgcgctttgggaacaggaaggttgagagagaggtgc c.-601
. . . . . . g.5171
tggggtctgcgtctatctctgtcgctcttttcagcccctcctggtattcccctcctaacc c.-541
. . . . . . g.5231
tgggttttttacacgcccgcgtggcttcctgctcgacctccctgagtctgatcctggttt c.-481
. . . . . . g.5291
ccacctccagccctgggaaatttcctttctccagactcgccctccccacccgggcctcgg c.-421
. . . . . . g.5351
actttcaccccagcttctctctcctggccagtgattacccacccccaatcccaccccgcc c.-361
. . . . . . g.5411
ccgccgcgcaactacctcctcccttcacccggactgggaccatcatccccactccactcc c.-301
. . . . . . g.5471
gcccagtctgggactccacctgcctcctccccaatcccacactaatctctgcttggtctc c.-241
. . . . . . g.5531
ttcctctttggcctaatctctcgtctcggcttattggggacggccactctcacagtttgg c.-181
. . . . . . g.5591
ttccaaacaccagttcctggatggattcccgccatccatgccccctctttaattagccgg c.-121
. . . . . . g.5651
tcctctcaataatgtagcagccccctctacagattagaccctggtcctacactcttagcc c.-61
. . . . . . g.5711
gctgcctgcttttgacctttggctcatgggtacttgacgttttaaactcctaggcccagg c.-1
| 02 . . . . . . g.5874
ATG | AGGAGGAGCTTGGCTCCCAGCCAGCTGGCCAAGAGAAAACCTGAAGGCAGGTCCTGT c.60
M | R R S L A P S Q L A K R K P E G R S C p.20
. . . | 03 . . . g.7335
GATGATGAAGACTGGCAACCTGGCCTAGTG | ACTCCTAGGAAACGGAAATCCAGCAGTGAG c.120
D D E D W Q P G L V | T P R K R K S S S E p.40
. . . . . . g.7395
ACCCAGATCCAGGAGTGTTTCCTGTCTCCTTTTCGGAAACCTTTGAGTCAGCTAACCAAT c.180
T Q I Q E C F L S P F R K P L S Q L T N p.60
. . . | 04 . . . g.16021
CAACCACCTTGTCTGGACAGCAGTCAGCAT | GAAGCATTTATTCGAAGCATTTTGTCAAAG c.240
Q P P C L D S S Q H | E A F I R S I L S K p.80
. . . | 05 . . . g.17298
CCTTTCAAAGTCCCCATTCCAAATTATCAAG | GTCCTCTGGGCTCTCGAGCATTGGGCCTG c.300
P F K V P I P N Y Q G | P L G S R A L G L p.100
. . . . . . g.17358
AAAAGGGCTGGGGTCCGCCGGGCCCTCCATGACCCCCTGGAAAAAGATGCCTTGGTTCTG c.360
K R A G V R R A L H D P L E K D A L V L p.120
. . . . | 06. . g.17860
TATGAGCCTCCCCCGCTGAGCGCTCATGACCAGCTGAAGCTTGACAA | GGAGAAACTCCCT c.420
Y E P P P L S A H D Q L K L D K | E K L P p.140
. . . . . | 07. g.18035
GTCCATGTGGTTGTTGACCCTATTCTCAGTAAGGTTTTGCGGCCTCATCAGAGAGAG | GGA c.480
V H V V V D P I L S K V L R P H Q R E | G p.160
. . . . . . g.18095
GTGAAATTCCTGTGGGAGTGTGTCACCAGTCGGCGCATCCCTGGCAGCCATGGCTGCATC c.540
V K F L W E C V T S R R I P G S H G C I p.180
. . . . . . g.18155
ATGGCTGATGAGATGGGCCTAGGAAAGACGCTGCAGTGCATCACATTGATGTGGACACTT c.600
M A D E M G L G K T L Q C I T L M W T L p.200
. . . . . . g.18215
TTACGCCAGAGTCCAGAGTGCAAGCCAGAAATTGACAAGGCAGTGGTGGTGTCGCCTTCC c.660
L R Q S P E C K P E I D K A V V V S P S p.220
. . . . . . g.18275
AGCCTGGTGAAGAACTGGTACAATGAGGTTGGGAAATGGCTCGGAGGGAGGATCCAACCT c.720
S L V K N W Y N E V G K W L G G R I Q P p.240
. . . . | 08 . . g.18580
CTGGCCATCGATGGAGGATCTAAGGATGAAATAGACCAAAAGCTGG | AAGGATTCATGAAC c.780
L A I D G G S K D E I D Q K L E | G F M N p.260
. . . . . . g.18640
CAGCGTGGAGCCAGGGTGTCTTCTCCCATCCTCATCATTTCCTATGAGACCTTCCGCCTT c.840
Q R G A R V S S P I L I I S Y E T F R L p.280
. . . . . | 09 . g.24773
CATGTTGGAGTCCTCCAGAAAGGAAGTGTTGGTCTGGTCATATGTGACGAG | GGACACAGG c.900
H V G V L Q K G S V G L V I C D E | G H R p.300
. . . . . . g.24833
CTCAAGAACTCTGAGAATCAGACTTACCAAGCCCTGGACAGCTTGAACACCAGCCGGCGG c.960
L K N S E N Q T Y Q A L D S L N T S R R p.320
. . . . . . g.24893
GTGCTCATCTCCGGAACTCCCATCCAGAATGATCTGCTTGAGTATTTCAGCTTGGTACAT c.1020
V L I S G T P I Q N D L L E Y F S L V H p.340
. . | 10 . . . . g.28002
TTTGTTAATTCCGGCATCCTAG | GGACTGCCCATGAATTCAAGAAGCATTTTGAATTGCCA c.1080
F V N S G I L G | T A H E F K K H F E L P p.360
. . . . . . g.28062
ATTTTGAAGGGTCGAGACGCTGCTGCTAGTGAGGCAGACAGGCAGCTAGGAGAGGAGCGG c.1140
I L K G R D A A A S E A D R Q L G E E R p.380
. . | 11 . . . g.29802
CTGCGGGAGCTCACCAGCATTGTGAATAG | ATGCCTGATACGGAGGACTTCTGATATCCTT c.1200
L R E L T S I V N R | C L I R R T S D I L p.400
. . . . | 12 . . g.29993
TCTAAATATCTGCCTGTGAAGATTGAGCAGGTCGTTTGTTGTAG | GCTGACACCCCTTCAG c.1260
S K Y L P V K I E Q V V C C R | L T P L Q p.420
. . . . . . g.30053
ACTGAGTTATACAAGAGGTTTCTGAGACAAGCCAAACCGGCAGAAGAATTGCTTGAGGGC c.1320
T E L Y K R F L R Q A K P A E E L L E G p.440
. . . . . | 13 . g.30665
AAGATGAGTGTGTCTTCCCTTTCTTCCATCACCTCGCTAAAGAAGCTTTGTAATC | ATCCA c.1380
K M S V S S L S S I T S L K K L C N H | P p.460
. . . . . . g.30725
GCTCTAATCTATGATAAGTGTGTGGAAGAGGAGGATGGCTTTGTGGGTGCCTTGGACCTC c.1440
A L I Y D K C V E E E D G F V G A L D L p.480
. . . . | 14 . . g.30943
TTCCCTCCTGGTTACAGCTCTAAGGCCCTGGAGCCCCAGCTGTCAG | GTAAGATGCTGGTC c.1500
F P P G Y S S K A L E P Q L S G | K M L V p.500
. . . . . . g.31003
CTGGATTATATTCTGGCGGTGACCCGAAGCCGTAGCAGTGACAAAGTAGTGCTGGTGTCG c.1560
L D Y I L A V T R S R S S D K V V L V S p.520
. . . . . | 15 . g.31453
AATTACACCCAGACTTTGGATCTCTTTGAGAAGCTGTGCCGTGCCCGAAG | GTACTTATAC c.1620
N Y T Q T L D L F E K L C R A R R | Y L Y p.540
. . . . . . g.31513
GTCCGCCTGGATGGCACGATGTCCATTAAGAAGCGAGCCAAGGTTGTAGAACGCTTCAAT c.1680
V R L D G T M S I K K R A K V V E R F N p.560
| 16 . . . . . g.31894
AGTCCATCG | AGCCCTGACTTTGTCTTCATGCTGAGCAGCAAAGCTGGGGGCTGTGGCCTC c.1740
S P S | S P D F V F M L S S K A G G C G L p.580
. . . . . . g.31954
AATCTCATTGGGGCTAACCGGCTGGTCATGTTTGACCCTGACTGGAACCCAGCCAATGAT c.1800
N L I G A N R L V M F D P D W N P A N D p.600
. . . . . . g.32014
GAACAAGCCATGGCCCGGGTCTGGCGAGATGGTCAAAAGAAGACTTGCTATATCTACCGC c.1860
E Q A M A R V W R D G Q K K T C Y I Y R p.620
| 17 . . . . . g.35173
CTGCTGTCT | GCAGGGACCATTGAGGAGAAGATCTTCCAGCGTCAGAGCCACAAGAAGGCA c.1920
L L S | A G T I E E K I F Q R Q S H K K A p.640
. . . . . . g.35233
CTGAGCAGCTGTGTGGTGGATGAGGAGCAGGATGTAGAGCGCCACTTCTCTCTGGGCGAG c.1980
L S S C V V D E E Q D V E R H F S L G E p.660
. . . . . | 18 . g.35384
TTGAAGGAGCTGTTTATCCTGGATGAAGCTAGCCTCAGTGACACACATGACAG | GTTGCAC c.2040
L K E L F I L D E A S L S D T H D R | L H p.680
. . . . . . g.35444
TGCCGACGTTGTGTCAACAGCCGTCAGATCCGGCCACCCCCTGATGGTTCTGACTGCACT c.2100
C R R C V N S R Q I R P P P D G S D C T p.700
. . . . . . g.35504
TCAGACCTGGCAGGGTGGAACCACTGCACTGATAAGTGGGGGCTCCGGGATGAGGTACTC c.2160
S D L A G W N H C T D K W G L R D E V L p.720
. . . . . . g.35564
CAGGCTGCCTGGGATGCTGCCTCCACTGCCATCACCTTCGTCTTCCACCAGCGTTCTCAT c.2220
Q A A W D A A S T A I T F V F H Q R S H p.740
. . g.35588
GAGGAGCAGCGGGGCCTCCGCTGA c.2244
E E Q R G L R X p.747
. . . . . . g.35648
taaccagctggtctgggtgtagctcttagaggaaggagatagggaaaaggggctccttgc c.*60
. . . . . . g.35708
tccacagggccctgttgaattttgttctctgggagaaaatcatcaagaagggctgcatga c.*120
. . . . . . g.35768
tgtttgcccaaaatttattttataagaaaaacttttttggttaaaaaaaagaataaaggt c.*180
. g.35779
atgaaagggtt c.*191
(downstream sequence)
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