(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)
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