polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like (POLR3GL) - coding DNA reference sequence

(used for variant description)

(last modified July 5, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_032305.1 in the POLR3GL gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering POLR3GL transcript NM_032305.1.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                     .         .         .         .                g.5047
              cttgaggaagcccagtacatttcaagttggtcgcggcttgggctccg       c.-61

 .         .         | 02         .         .         .             g.15165
 ctttggggaggggcagcag | gtttattcactggatctctgaatacccaggccccctccacc    c.-1

          .         .         .         .         .         .       g.15225
 ATGGCCAGCCGGGGTGGGGGCCGGGGTCGTGGCCGGGGCCAGTTGACCTTCAACGTGGAG       c.60
 M  A  S  R  G  G  G  R  G  R  G  R  G  Q  L  T  F  N  V  E         p.20

          .         .         .         .         .         .       g.15285
 GCCGTGGGCATTGGGAAAGGGGATGCTTTGCCCCCACCCACCCTGCAGCCTTCTCCACTC       c.120
 A  V  G  I  G  K  G  D  A  L  P  P  P  T  L  Q  P  S  P  L         p.40

        | 03 .         .         .         .         .         .    g.15660
 TTCCCT | CCCTTGGAGTTCCGCCCAGTACCTTTGCCCTCAGGCGAGGAAGGGGAATATGTC    c.180
 F  P   | P  L  E  F  R  P  V  P  L  P  S  G  E  E  G  E  Y  V      p.60

          .         .         .         .         .         .       g.15720
 CTGGCACTGAAGCAAGAGCTACGAGGAGCCATGAGGCAGCTCCCCTACTTCATCCGGCCA       c.240
 L  A  L  K  Q  E  L  R  G  A  M  R  Q  L  P  Y  F  I  R  P         p.80

          .       | 04 .         .         .         .         .    g.17428
 GCTGTCCCCAAGAGAG | ATGTGGAGCGTTATTCAGACAAATATCAGATGTCAGGTCCGATT    c.300
 A  V  P  K  R  D |   V  E  R  Y  S  D  K  Y  Q  M  S  G  P  I      p.100

          .         .      | 05  .         .         .         .    g.17818
 GACAATGCCATCGATTGGAACCCTG | ATTGGCGGCGTCTACCCCGGGAGCTAAAGATCCGA    c.360
 D  N  A  I  D  W  N  P  D |   W  R  R  L  P  R  E  L  K  I  R      p.120

          .         .   | 06     .         .         .         .    g.18116
 GTGCGGAAGCTACAGAAGGAAC | GGATTACAATTCTGCTCCCCAAGAGGCCCCCTAAGACC    c.420
 V  R  K  L  Q  K  E  R |   I  T  I  L  L  P  K  R  P  P  K  T      p.140

          .         .         .       | 07 .         .         .    g.18307
 ACAGAAGATAAGGAGGAAACAATACAGAAACTAGAG | ACCCTGGAGAAGAAGGAAGAAGAA    c.480
 T  E  D  K  E  E  T  I  Q  K  L  E   | T  L  E  K  K  E  E  E      p.160

          .         .         .         .         .         .       g.18367
 GTAACTTCAGAGGAGGATGAGGAGAAAGAAGAAGAAGAAGAGAAGGAAGAGGAGGAAGAA       c.540
 V  T  S  E  E  D  E  E  K  E  E  E  E  E  K  E  E  E  E  E         p.180

          .         .         . | 08       .         .         .    g.18694
 GAAGAGTATGATGAAGAAGAACATGAAGAG | GAAACTGATTACATCATGTCATATTTTGAC    c.600
 E  E  Y  D  E  E  E  H  E  E   | E  T  D  Y  I  M  S  Y  F  D      p.200

          .         .         .         .         .                 g.18751
 AATGGAGAGGACTTTGGTGGTGACAGTGATGACAATATGGACGAGGCTATATACTGA          c.657
 N  G  E  D  F  G  G  D  S  D  D  N  M  D  E  A  I  Y  X            p.218

          .         .         .         .         .         .       g.18811
 agaaggactctggaccctcgtgtctttctttaggatacagagagtaactgtacctattat       c.*60

          .         .         .         .         .         .       g.18871
 ttgtttcttcagacaagcaaatcatttggtcagagttcatataatctgtctgttccctgg       c.*120

          .         .         .         .         .         .       g.18931
 agatgggaatagaggatgatgacagtttattttctacacttcccctccttccacatttgt       c.*180

          .         .         .         .         .         .       g.18991
 atcacctttgctatcttggggaaagtgcaaaggacaaacatctcaattgtatgaagggag       c.*240

          .         .         .         .         .         .       g.19051
 aaaggagaattgaaagaagaactggggttgttagagctgagatgactgtacacatacccc       c.*300

          .         .         .         .         .         .       g.19111
 tgcccaatttatatagctctttgtggagataattaggggtgggagcagtttgaaggagta       c.*360

          .         .         .         .                           g.19152
 agcctggttttatacttttaaataaagtgtttttatctgtc                          c.*401

 (downstream sequence)

Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10^th nucleotide is indicated by a "." above the sequence. The Polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.