(used for variant description)
(last modified April 20, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_000996.2 in the RPL35A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering RPL35A transcript NM_000996.2.
(upstream sequence)
. g.5013
ggcctcgtccttc c.-61
. . . | 02. . . g.5787
tcttaccgccatcttggctcctgtggag | gcctgctgggaacgggacttctaaaaggaact c.-1
. | 03 . . . . . g.6027
ATGTCTGGAAG | GCTGTGGTCCAAGGCCATTTTTGCTGGCTATAAGCGGGGTCTCCGGAAC c.60
M S G R | L W S K A I F A G Y K R G L R N p.20
. . . . . . g.6087
CAAAGGGAGCACACAGCTCTTCTTAAAATTGAAGGTGTTTACGCCCGAGATGAAACAGAA c.120
Q R E H T A L L K I E G V Y A R D E T E p.40
. . . . | 04 . . g.8838
TTCTATTTGGGCAAGAGATGCGCTTATGTATATAAAGCAAAGAA | CAACACAGTCACTCCT c.180
F Y L G K R C A Y V Y K A K N | N T V T P p.60
. . . . . . g.8898
GGCGGCAAACCAAACAAAACCAGAGTCATCTGGGGAAAAGTAACTCGGGCCCATGGAAAC c.240
G G K P N K T R V I W G K V T R A H G N p.80
. . . . . . g.8958
AGTGGCATGGTTCGTGCCAAATTCCGAAGCAATCTTCCTGCTAAGGCCATTGGACACAGA c.300
S G M V R A K F R S N L P A K A I G H R p.100
| 05 . . g.10620
ATCCGAGTG | ATGCTGTACCCCTCAAGGATTTAA c.333
I R V | M L Y P S R I X p.110
. . . . . . g.10680
actaacgaaaaatcaataaataaatgtggatttgtgctcttgtatttttaagtggattaa c.*60
. g.10698
aaaacttactaccttaaa c.*78
(downstream sequence)
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