(used for variant description)
(last modified November 24, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000398.6 in the CYB5R3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012194.1, covering CYB5R3 transcript NM_000398.6.
(upstream sequence)
. . g.5024
ctgctccggagtgacgcgggcccg c.-61
. . . . . . g.5084
ggcgcgacggtctcggcggcggcggcggcggcgacagagcgagcgcggcgcggggccacc c.-1
. . | 02 . . . . g.17592
ATGGGGGCCCAGCTCAGCACG | TTGGGCCATATGGTGCTCTTCCCAGTCTGGTTCCTGTAC c.60
M G A Q L S T | L G H M V L F P V W F L Y p.20
. . . . . . g.17652
AGTCTGCTCATGAAGCTGTTCCAGCGCTCCACGCCAGCCATCACCCTCGAGAGCCCGGAC c.120
S L L M K L F Q R S T P A I T L E S P D p.40
. . . | 03 . . . g.22976
ATCAAGTACCCGCTGCGGCTCATCGACCGGGAG | ATCATCAGCCATGACACCCGGCGCTTC c.180
I K Y P L R L I D R E | I I S H D T R R F p.60
. . . . | 04 . . g.23425
CGCTTTGCCCTGCCGTCACCCCAGCACATCCTGGGCCTCCCTGTCG | GCCAGCACATCTAC c.240
R F A L P S P Q H I L G L P V G | Q H I Y p.80
. . . . . . g.23485
CTCTCGGCTCGAATTGATGGAAACCTGGTCGTCCGGCCCTATACACCCATCTCCAGCGAT c.300
L S A R I D G N L V V R P Y T P I S S D p.100
. . . | 05 . . . g.26145
GATGACAAGGGCTTCGTGGACCTGGTCATCAAG | GTTTACTTCAAGGACACCCATCCCAAG c.360
D D K G F V D L V I K | V Y F K D T H P K p.120
. . . . . . g.26205
TTTCCCGCTGGAGGGAAGATGTCTCAGTACCTGGAGAGCATGCAGATTGGAGACACCATT c.420
F P A G G K M S Q Y L E S M Q I G D T I p.140
. . . . | 06 . . g.26728
GAGTTCCGGGGCCCCAGTGGGCTGCTGGTCTACCAGGGCAAAG | GGAAGTTCGCCATCCGA c.480
E F R G P S G L L V Y Q G K G | K F A I R p.160
. . . . . . g.26788
CCTGACAAAAAGTCCAACCCTATCATCAGGACAGTGAAGTCTGTGGGCATGATCGCGGGA c.540
P D K K S N P I I R T V K S V G M I A G p.180
| 07. . . . . . g.27063
GGGACAG | GCATCACCCCGATGCTGCAGGTGATCCGCGCCATCATGAAGGACCCTGATGAC c.600
G T G | I T P M L Q V I R A I M K D P D D p.200
. . . | 08 . . . g.30538
CACACTGTGTGCCACCTGCTCTTTGCCAACCAG | ACCGAGAAGGACATCCTGCTGCGACCT c.660
H T V C H L L F A N Q | T E K D I L L R P p.220
. . . . . . g.30598
GAGCTGGAGGAACTCAGGAACAAACATTCTGCACGCTTCAAGCTCTGGTACACGCTGGAC c.720
E L E E L R N K H S A R F K L W Y T L D p.240
. | 09 . . . . . g.34501
AGAGCCCCTGAAG | CCTGGGACTACGGCCAGGGCTTCGTGAATGAGGAGATGATCCGGGAC c.780
R A P E A | W D Y G Q G F V N E E M I R D p.260
. . . . . . g.34561
CACCTTCCACCCCCAGAGGAGGAGCCGCTGGTGCTGATGTGTGGCCCCCCACCCATGATC c.840
H L P P P E E E P L V L M C G P P P M I p.280
. . . . . . g.34621
CAGTACGCCTGCCTTCCCAACCTGGACCACGTGGGCCACCCCACGGAGCGCTGCTTCGTC c.900
Q Y A C L P N L D H V G H P T E R C F V p.300
g.34627
TTCTGA c.906
F X p.301
. . . . . . g.34687
gggccgggcacggtcacacggccacccgccccgcgcaccccacgccctgttcacgctcac c.*60
. . . . . . g.34747
ccagtcacctccccacatcgcacactggggccccgggttcagcctggcctgcccgtgccc c.*120
. . . . . . g.34807
tggtgaatcacctggctgagcagttcccctggagccccttcgggagcagggctgtgtccc c.*180
. . . . . . g.34867
agatgggccacggctgagccttcagagtacgtcctgcctggcacttactggtccttacca c.*240
. . . . . . g.34927
gagacgcccagccccatccctgtcctcatgacccctcgtccaccccccacacacactata c.*300
. . . . . . g.34987
aggctgagggctgccagcagccccgtctgcccaccattcccggccgtggaccatagtcgg c.*360
. . . . . . g.35047
gatgtcagcagacacacatgggcagcccaaagctgcaggtgccagggcccaccccagcct c.*420
. . . . . . g.35107
cgcctgtcacccccactcccgcctcagggccaggcccaggcctcaccacctgacgctgca c.*480
. . . . . . g.35167
tgagacattgacaccagaaagccctcttgggggcactgctccctaccccagggccctggc c.*540
. . . . . . g.35227
cagccgggagcttggctctcctctggctagagtgggaagagggggctggccatggggccc c.*600
. . . . . . g.35287
tcccagaacctcagcatttccttccagcccatccaaacactgaggcagccttggggaacc c.*660
. . . . . . g.35347
ccgagctggggggttggcagcccactgcaccgcctcagggttttggggtcctgggctggg c.*720
. . . . . . g.35407
gccaccatccctgatggcagaactcccacaaccacatgtatttattcctctgtcctaaac c.*780
. . . . . . g.35467
cgtcccctccttccctcacccccagcacagggggattctgagcagtgcctcttgtctgag c.*840
. . . . . . g.35527
ggacatatcagtgacctcgacgttgcctttagactacagttgtgttagcctcttgcgtat c.*900
. . . . . . g.35587
tggctttttcagagtcatttatgagcagaaaaaaaaaaagtaaaactttgctaatattaa c.*960
. . . . . . g.35647
cccttctctagctcctcgagggtctgtgacctgcaacacaaggggtggggtcaggaaagg c.*1020
. . . . . . g.35707
gctggggaagacctagcattttttttttcttttttttttttttttgagacggagtctccc c.*1080
. . . . . . g.35767
tttgtcacccaggctggagtggcatgatctcagctcactacaacctccacctctcgggtt c.*1140
. . . . . . g.35827
caagcgattctcctgcctcagcctcccgagtagctgggactaaaagtgcccaccaccaca c.*1200
. . . . . . g.35887
cccagctagtttttgtatttttttttttttttttttgagacggagtctcgctctgtcgcc c.*1260
. . . . . . g.35947
caggctggagtgcagtggcgggatctcggctcactgcaagctccgcctcccgggttcacg c.*1320
. . . . . . g.36007
ccattctcctgcctcagcctcccaagtagctgggactacaggcgcccgccactacgcccg c.*1380
. . . . . . g.36067
gctaattttttgtatttttagtagagacggggtttcaccgttttagccgggatggtctcg c.*1440
. . . . . . g.36127
atctcctgacctcgtgatccgcccgcctcggcctcccaaagtgctgggattacaggcgtg c.*1500
. . . . . . g.36187
agccactgcgcccggctccagcatttatttctgatgtatctttgtggtagaaaatttgga c.*1560
. . . . . . g.36247
aagtgcagagaagtatacacaggaagaaaaattcccaacccccagaggcaaaccagctga c.*1620
. . . . . . g.36307
aaccacgcaaccccagtcaccccaatgcaccgcgaggctgctgcctcctgtcagggtcag c.*1680
. . . . . . g.36367
atgagcctcgaggctcaggaaagtcagaggatgccatctgcatggtggtaaattacagag c.*1740
. . . . . . g.36427
gtgatgaggcaaggtgggtgtggggctgttcttaaaacggggcagcaggaaggccccaag c.*1800
. . . . . . g.36487
gagatggatttgggctgggacgggaagagagagctggccatgctggggtgggtgggtgtt c.*1860
. . . . . . g.36547
caaatggtggaaacagcagacgcaaaggccctgccgttggaaccagcttgtggaataaac c.*1920
. g.36560
tttcagaaacaga c.*1933
(downstream sequence)
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