N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG) - coding DNA reference sequence

(used for variant description)

(last modified December 19, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_032520.4 in the GNPTG gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016985.1, covering GNPTG transcript NM_032520.4.

Please note that introns are available by clicking on the exon numbers above the sequence. 
 (upstream sequence)
                                                                    g.5007
                                                      ccacttc       c.-61

 .         .         .         .         .         .                g.5067
 cggtccccgtggtcacgtgaccgtcacttcacgtgaccgcgcggcggccgctgcggcgcg       c.-1

          .         .         .         .         .   | 02     .    g.5211
 ATGGCGGCGGGGCTGGCGCGGCTCCTGTTGCTCCTCGGGCTCTCGGCCGGCG | GGCCCGCG    c.60
 M  A  A  G  L  A  R  L  L  L  L  L  G  L  S  A  G  G |   P  A      p.20

          .         .         .         .         . | 03       .    g.5350
 CCGGCAGGTGCAGCGAAGATGAAGGTGGTGGAGGAGCCCAACGCGTTTGG | GGTGAACAAC    c.120
 P  A  G  A  A  K  M  K  V  V  E  E  P  N  A  F  G  |  V  N  N      p.40

          .         .         .         .         .         | 04    g.14846
 CCGTTCTTGCCTCAGGCCAGTCGCCTCCAGGCCAAGAGGGATCCTTCACCCGTGTCTG | GA    c.180
 P  F  L  P  Q  A  S  R  L  Q  A  K  R  D  P  S  P  V  S  G |       p.60

          .         .         .         .         .    | 05    .    g.14980
 CCCGTGCATCTCTTCCGACTCTCGGGCAAGTGCTTCAGCCTGGTGGAGTCCAC | GTACAAG    c.240
 P  V  H  L  F  R  L  S  G  K  C  F  S  L  V  E  S  T  |  Y  K      p.80

          .         .         .         .         .         .       g.15040
 TATGAGTTCTGCCCGTTCCACAACGTGACCCAGCACGAGCAGACCTTCCGCTGGAACGCC       c.300
 Y  E  F  C  P  F  H  N  V  T  Q  H  E  Q  T  F  R  W  N  A         p.100

          .        | 06.         .         .         .         .    g.15182
 TACAGTGGGATCCTCGG | CATCTGGCACGAGTGGGAGATCGCCAACAACACCTTCACGGGC    c.360
 Y  S  G  I  L  G  |  I  W  H  E  W  E  I  A  N  N  T  F  T  G      p.120

          .         .         .         .         .  | 07      .    g.15316
 ATGTGGATGAGGGACGGTGACGCCTGCCGTTCCCGGAGCCGGCAGAGCAAG | GTGGAGCTG    c.420
 M  W  M  R  D  G  D  A  C  R  S  R  S  R  Q  S  K   | V  E  L      p.140

          .         .         .         .         .         .       g.15376
 GCGTGTGGAAAAAGCAACCGGCTGGCCCATGTGTCCGAGCCGAGCACCTGCGTCTACGCG       c.480
 A  C  G  K  S  N  R  L  A  H  V  S  E  P  S  T  C  V  Y  A         p.160

          .         .         .         .       | 08 .         .    g.15567
 CTGACGTTCGAGACCCCCCTCGTCTGCCACCCCCACGCCTTGCTAG | TGTACCCAACCCTG    c.540
 L  T  F  E  T  P  L  V  C  H  P  H  A  L  L  V |   Y  P  T  L      p.180

          .         .         .         .         .         .       g.15627
 CCAGAGGCCCTGCAGCGGCAGTGGGACCAGGTAGAGCAGGACCTGGCCGATGAGCTGATC       c.600
 P  E  A  L  Q  R  Q  W  D  Q  V  E  Q  D  L  A  D  E  L  I         p.200

           | 09        .         .         .         .         .    g.15763
 ACCCCCCAG | GGCCATGAGAAGTTGCTGAGGACACTTTTTGAGGATGCTGGCTACTTAAAG    c.660
 T  P  Q   | G  H  E  K  L  L  R  T  L  F  E  D  A  G  Y  L  K      p.220

          .         .         .         .         .         .       g.15823
 ACCCCAGAAGAAAATGAACCCACCCAGCTGGAGGGAGGTCCTGACAGCTTGGGGTTTGAG       c.720
 T  P  E  E  N  E  P  T  Q  L  E  G  G  P  D  S  L  G  F  E         p.240

          .         .  | 10      .         .         .         .    g.15965
 ACCCTGGAAAACTGCAGGAAG | GCTCATAAAGAACTCTCAAAGGAGATCAAAAGGCTGAAA    c.780
 T  L  E  N  C  R  K   | A  H  K  E  L  S  K  E  I  K  R  L  K      p.260

          .         .         .         .    | 11    .         .    g.16115
 GGTTTGCTCACCCAGCACGGCATCCCCTACACGAGGCCCACAG | AAACTTCCAACTTGGAG    c.840
 G  L  L  T  Q  H  G  I  P  Y  T  R  P  T  E |   T  S  N  L  E      p.280

          .         .         .         .         .         .       g.16175
 CACTTGGGCCACGAGACGCCCAGAGCCAAGTCTCCAGAGCAGCTGCGGGGTGACCCAGGA       c.900
 H  L  G  H  E  T  P  R  A  K  S  P  E  Q  L  R  G  D  P  G         p.300

          .                                                         g.16193
 CTGCGTGGGAGTTTGTGA                                                 c.918
 L  R  G  S  L  X                                                   p.305

          .         .         .         .         .         .       g.16253
 ccttgtggtgggagagcagaggtggacgcggccgagagccctacagagaagctggctggt       c.*60

          .         .         .         .         .         .       g.16313
 aggacccgcagggaccagctgaccaggcttgtgctcagagaagcagacaaaacaaagatt       c.*120

          .         .         .         .         .         .       g.16373
 caaggttttaattaattcccatactgataaaaataactccatgaattctgtaaaccattg       c.*180

          .         .         .         .         .         .       g.16433
 cataaatgctatagtgtaaaaaaatttaaacaagtgttaactttaaacagttcgctacaa       c.*240

          .         .                                               g.16453
 gtaaatgattataaatacta                                               c.*260

 (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 10th nucleotide is indicated by a "." above the sequence. The N-acetylglucosamine-1-phosphate transferase, gamma subunit protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

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