(used for variant description)
(last modified December 15, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_002099.6 in the GYPA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering GYPA transcript NM_002099.6.(upstream sequence) . . . . . g.5056 gcaggaaggtgggcctggaagataacagctagcaggctaaggtcagacactgacac c.-61 . . . . . . g.5116 ttgcagttgtctttggtagtttttttgcactaacttcaggaaccagctcatgatctcagg c.-1 . . . | 02. . . g.25186 ATGTATGGAAAAATAATCTTTGTATTACTATTGTCAG | AAATTGTGAGCATATCAGCATTA c.60 M Y G K I I F V L L L S E | I V S I S A L p.20 . . . . . . g.25246 AGTACCACTGAGGTGGCAATGCACACTTCAACTTCTTCTTCAGTCACAAAGAGTTACATC c.120 S T T E V A M H T S T S S S V T K S Y I p.40 . | 03 . . . . . g.26014 TCATCACAGACAAATG | ATACGCACAAACGGGACACATATGCAGCCACTCCTAGAGCTCAT c.180 S S Q T N D | T H K R D T Y A A T P R A H p.60 . . . . . | 04 . g.27007 GAAGTTTCAGAAATTTCTGTTAGAACTGTTTACCCTCCAGAAGAGGAAACCG | GAGAAAGG c.240 E V S E I S V R T V Y P P E E E T G | E R p.80 . . . | 05 . . . g.28841 GTACAACTTGCCCATCATTTCTCTGAACCAG | AGATAACACTCATTATTTTTGGGGTGATG c.300 V Q L A H H F S E P E | I T L I I F G V M p.100 . . . . . | 06. g.30987 GCTGGTGTTATTGGAACGATCCTCTTAATTTCTTACGGTATTCGCCGACTGATAAAG | AAA c.360 A G V I G T I L L I S Y G I R R L I K | K p.120 . . . . . . g.31047 AGCCCATCTGATGTAAAACCTCTCCCCTCACCTGACACAGACGTGCCTTTAAGTTCTGTT c.420 S P S D V K P L P S P D T D V P L S S V p.140 . | 07 . . g.34385 GAAATAGAAAATCCAG | AGACAAGTGATCAATGA c.453 E I E N P E | T S D Q X p.150 . . . . . . g.34445 gaatctgttcaccaaaccaaatgtggaaagaacacaaagaagacataagacttcagtcaa c.*60 . . . . . . g.34505 gtgaaaaattaacatgtggactggacactccaataaattatatacctgcctaagttgtac c.*120 . . . . . . g.34565 aatttcagaatgcaattttcattataatgagttccagtgactcaatgatggggaaaaaaa c.*180 . . . . . . g.34625 tctctgctcattaatatttcaagataaagaacaaatgtttccttgaatgcttgcttttgt c.*240 . . . . . . g.34685 gtgttagcataatttttagaattgtttgagaattctgatccaaaactttagttgaattca c.*300 . . . . . . g.34745 tctacgtttgtttaatattaacttaacctattctattgtattataatgatgattctgtca c.*360 . . . . . . g.34805 aatgaaaggcttgaaatacctagatgaagtttagattttcttcctattgtaaacttttga c.*420 . . . . . . g.34865 gtctggtttcattgttttaaataaattaaggggacactaaagtcctatcattcatttcct c.*480 . . . . . . g.34925 tcattgctgaacaggcaagatataatattacatgaatgattactatattttgttcacact c.*540 . . . . . . g.34985 aataaagcttatgctcagaaatgccatacacacacacacacacacacacaaacacacaca c.*600 . . . . . . g.35045 tttatcatttaatgcataaatcaacacaaaaggttttcccattaatatgaaatattacat c.*660 . . . . . . g.35105 atatataagtgccatatttaaaataatttgtctaacagtagaactgtgtcggagcactca c.*720 . . . . . . g.35165 ctgaagcttgcattccactgaaagagttatttgtgtaagtagagtatccggagaaggaaa c.*780 . . . . . . g.35225 agaacttacgacctttctttataacagaaactcaactctaaattcaacaagatgtgcaaa c.*840 . . . . . . g.35285 ccggacatgcaggtgaatattttaataggttactataaggttctcaattaaattctttaa c.*900 . . . . . . g.35345 tctgtccagtcccagtttctcttattaataaaactttggaaattgctttaaaccatttaa c.*960 . . . . . . g.35405 aggaaatttctagatatagaaactaaggactgtgactatacagctgtcactcatttgtag c.*1020 . . . . . . g.35465 taaaacttaaaaagcaaaaacaaaaaacaaaaaagaccttcctgtgatactttatttccg c.*1080 . . . . . . g.35525 aactaataaaaatctatatgactttttattattgtgtgataaccaagtaaatgttttcta c.*1140 . . . . . . g.35585 ttttgcatattttcaggcatggtaacagaaatttaccttttaataaattaaaaaatctaa c.*1200 . . . . . . g.35645 attttaacctacttgtatgttcggagagtgtttttgtactatattgactacttaaaatag c.*1260 . . . . . . g.35705 agaatgagactaagaagggaacatttctgttgatacatgttttttaaaagtaattttaag c.*1320 . . . . . . g.35765 agcattattaggttaattaatccaattaatgacccaaatgccaaggtaattttaaattta c.*1380 . . . . . . g.35825 catttttaataaaagcaacatgttgaaacaagagagggtgagattaacctttttgctaaa c.*1440 . . . . . . g.35885 gtaatttacaagtcaaagacaggaagagatcagagtgaatgtgccttcttaaccagagct c.*1500 . . . . . . g.35945 acagaatttagtgaataattaaagtacaaactgctttgacctccttgaacttttccaagc c.*1560 . . . . . . g.36005 aatttctctgtacttctatatatgaatgtcttagccaattttctgctactataacagaat c.*1620 . . . . . . g.36065 acgacagactgggtaatttaaaaagaaaagaaatttattttcttcctagttctggaggct c.*1680 . . . . . . g.36125 gggaaggcgaagggcatggcactgacatctgccttgtaactgatgagaaccttcttactg c.*1740 . . . . . . g.36185 catgataacaaagcagcaaggcaagcaaaagcgtaagatgaagagagaggaaatgaagcc c.*1800 . . . . . . g.36245 aaacacatcctttcatcagaagcccattccctctataaggcgttattacatttatgagaa c.*1860 . . . . . . g.36305 tggagtcctcatgacctaatcgtgaccttaaaggcccctcccaacactgttacaatggca c.*1920 . . . . . . g.36365 attaaatttcaacaaaggttccagaggtgacattcgaatcagcaatgaaattttcatagt c.*1980 . . . . . . g.36425 taaatttggtattcgtgggggaagaaatgaccatttcccttgtatttttataattaaatc c.*2040 . . . . . g.36476 agcaaaatattgtaataaagaaatctttcctgtgaagataccatgacccca c.*2091 (downstream sequence)Legend:
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