(used for variant description)
(last modified July 18, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_144611.3 in the CYB5D2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering CYB5D2 transcript NM_144611.3.
(upstream sequence)
. . . . g.5048
atctacgtcattccgtagcctccgctgccgccatctttgttggggctg c.-541
. . . . . . g.5108
acaacctgcaagccaagaagtacgagaagggccaggcgcggtggctcacgcctgtaatcc c.-481
. . . . . . g.5168
cagcactttgggaggccgagacgggtggatcacctgaggtcaggagttcgagaccagcct c.-421
. . . . . . g.5228
gaccaacgtggtgaaaccctgtctctactaaatacaaaatattagccggacgtgggggcg c.-361
. . . . . . g.5288
cgtgcctgtaatcccagctacttgggaggctgaggcaggagaatcgcttgaacccgggag c.-301
. . . . . . g.5348
gcggaggttgcagtgagccgagattccgccagtgcactccagcctggacaacaagagcta c.-241
. . . . . . g.5408
aaactctgtctcagaaaaaaaaaaaaaaagtacctggaaaaagtcgcagacagcgagctt c.-181
. . . . . . g.5468
ttcgccagtgccaggaatacagataaaacgagagagactaagggagggagcgcgagcact c.-121
. . . . . . g.5528
agcgcgcgagagagagagcgagagcgcgcgcgccgatgacgtcacgctcggcgtctcggc c.-61
. . . . . . g.5588
catcttagctgtagatagaggcggcaacctcggaagtgcggagcgggtgggcctatatag c.-1
. . . . . . g.5648
ATGTTGAGGTGCGGAGGCCGTGGGCTTTTGTTGGGCCTGGCTGTAGCCGCAGCAGCGGTA c.60
M L R C G G R G L L L G L A V A A A A V p.20
. . . . . . g.5708
ATGGCAGCACGGCTTATGGGCTGGTGGGGTCCCCGCGCTGGCTTTCGCCTTTTCATACCG c.120
M A A R L M G W W G P R A G F R L F I P p.40
. . . . . . g.5768
GAGGAGCTGTCTCGCTACCGCGGCGGCCCAGGGGACCCGGGCCTGTACTTGGCGTTGCTC c.180
E E L S R Y R G G P G D P G L Y L A L L p.60
. . . . . . g.5828
GGCCGTGTCTACGATGTGTCCTCCGGCCGGAGGCACTACGAGCCTGGGTCCCACTATAGC c.240
G R V Y D V S S G R R H Y E P G S H Y S p.80
. | 02 . . . . . g.11773
GGCTTCGCAG | GCCGAGACGCATCCAGAGCTTTCGTGACCGGGGACTGTTCTGAAGCAGGC c.300
G F A G | R D A S R A F V T G D C S E A G p.100
. . . . . . g.11833
CTCGTGGATGACGTATCCGACCTGTCAGCCGCTGAGATGCTGACACTTCACAATTGGCTT c.360
L V D D V S D L S A A E M L T L H N W L p.120
. . . | 03 . . . g.16535
TCATTCTATGAGAAGAATTATGTGTGTGTTG | GGAGGGTGACAGGACGGTTCTACGGAGAG c.420
S F Y E K N Y V C V G | R V T G R F Y G E p.140
. . . . . . g.16595
GATGGGCTGCCCACCCCGGCACTGACCCAGGTAGAAGCTGCGATCACCAGAGGCTTGGAG c.480
D G L P T P A L T Q V E A A I T R G L E p.160
. . . . . . g.16655
GCCAACAAACTACAGCTGCAAGAGAAGCAGACATTCCCGCCGTGCAACGCGGAGTGGAGC c.540
A N K L Q L Q E K Q T F P P C N A E W S p.180
. . . | 04 . . g.18720
TCAGCCAGGGGCAGCCGGCTCTGGTGCTCCCAGAAGAG | TGGAGGTGTGAGCAGAGACTGG c.600
S A R G S R L W C S Q K S | G G V S R D W p.200
. . . . . . g.18780
ATTGGCGTCCCCAGGAAGCTGTATAAGCCAGGTGCTAAGGAGCCCCGCTGCGTGTGTGTG c.660
I G V P R K L Y K P G A K E P R C V C V p.220
. . . . . . g.18840
AGAACCACCGGCCCCCCTAGTGGCCAGATGCCGGACAACCCTCCACACAGAAATCGTGGG c.720
R T T G P P S G Q M P D N P P H R N R G p.240
. . . . . . g.18900
GACCTGGACCACCCAAACTTGGCAGAGTACACAGGCTGCCCACCGCTAGCCATCACATGC c.780
D L D H P N L A E Y T G C P P L A I T C p.260
. g.18915
TCCTTTCCACTCTAA c.795
S F P L X p.264
. . . . . . g.18975
gccgtagcctcttctgttaataacacacagagagctctgccaagcacctgagtaggccct c.*60
. . . . . . g.19035
tgacacttgtgtgccctgggatgcctcctggcgcgaatcaggagggtctggaaggactct c.*120
. . . . . . g.19095
ggctatattctgcaaatgtggctcatgccccttaccgtggctcggcgttgtggtgcctga c.*180
. . . . . . g.19155
gggacagccggccacctgcccagtactggtcagcttttcaacactattccctttgaccta c.*240
. . . . . . g.19215
ctggccatcttcctcacagccctcagatatcaacgggcacaaataagaccaactcaattt c.*300
. . . . . . g.19275
ccacttgaatttacaaccaaaagcctgctgagttgattacagctgggccaatacagtacg c.*360
. . . . . . g.19335
aggcaataacaaattagtgtgggttgattctggaattggaaaagcttttgcttgtatgga c.*420
. . . . . . g.19395
tacagcaaatccagatgtctctgaacaaagcaacaatttaaagcaacgacattttctgtc c.*480
. . . . . . g.19455
ctttaagcacttaaaatcaggtgtggtgtgttttcaaaggcagaagtctgcattttgagc c.*540
. . . . . . g.19515
aaaaggtggcttcccagctctaacaaggtaactggttagcatgacattaaagcttgggca c.*600
. g.19530
aggcttcaaacttaa c.*615
(downstream sequence)
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