(used for variant description)
(last modified June 3, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000856.4 in the GUCY1A3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering GUCY1A3 transcript NM_000856.4.
(upstream sequence)
. . . . . g.5056
cacacagtgatttctgttatggcgattgggcggctgcagagaccaggactcagttc c.-481
. . . . . . g.5116
ccctgccctagtctgagcctagtgggtgggactcagctcagagtcagttttccagaagca c.-421
. . . . . . g.5176
ggtttcagtgcagagttttcctacacttttcctgcgctagagcagcgagcagcctggaac c.-361
. . . . . . g.5236
agacccaggcggaggacacctgtgggggagggagcgcctggaggagcttagagaccccag c.-301
. . | 02 . . . g.5676
ccgggcgtgatctcaccatg | tgcggatttgcgaggcgcgccctggagctgctagagatcc c.-241
. . . . | 03 . . g.6406
ggaagcacagccccgaggtgtgcgaagccaccaa | gactgcggctcttggagaaagcgtga c.-181
. . . . . . g.6466
gcagggggccaccgcggtctccgcgcctgtctgcaccctgtcgcctgagctgcctgacag c.-121
. | 04. . . . . g.35098
tgacaatg | acatcccagttaccagtgtccttgaattgatagtggcttctgtttgtcagtc c.-61
. . . . . . g.35158
tcatataagaactacagctcatcaggaggagatcgcagcagggtaagagacaccaacacc c.-1
. . . . . . g.35218
ATGTTCTGCACGAAGCTCAAGGATCTCAAGATCACAGGAGAGTGTCCTTTCTCCTTACTG c.60
M F C T K L K D L K I T G E C P F S L L p.20
. . . . . . g.35278
GCACCAGGTCAAGTTCCTAACGAGTCTTCAGAGGAGGCAGCAGGAAGCTCAGAGAGCTGC c.120
A P G Q V P N E S S E E A A G S S E S C p.40
. . . . . . g.35338
AAAGCAACCGTGCCCATCTGTCAAGACATTCCTGAGAAGAACATACAAGAAAGTCTTCCT c.180
K A T V P I C Q D I P E K N I Q E S L P p.60
. . . . . . g.35398
CAAAGAAAAACCAGTCGGAGCCGAGTCTATCTTCACACTTTGGCAGAGAGTATTTGCAAA c.240
Q R K T S R S R V Y L H T L A E S I C K p.80
. | 05 . . . . . g.42267
CTGATTTTCCCAGAG | TTTGAACGGCTGAATGTTGCACTTCAGAGAACATTGGCAAAGCAC c.300
L I F P E | F E R L N V A L Q R T L A K H p.100
. | 06. . . . . g.46569
AAAATAAAAGAAAGCAG | GAAATCTTTGGAAAGAGAAGACTTTGAAAAAACAATTGCAGAG c.360
K I K E S R | K S L E R E D F E K T I A E p.120
. | 07 . . . . . g.48876
CAAGCAGTTGCAGCAG | GAGTTCCAGTGGAGGTTATCAAAGAATCTCTTGGTGAAGAGGTT c.420
Q A V A A G | V P V E V I K E S L G E E V p.140
. . . . . . g.48936
TTTAAAATATGTTACGAGGAAGATGAAAACATCCTTGGGGTGGTTGGAGGCACCCTTAAA c.480
F K I C Y E E D E N I L G V V G G T L K p.160
. . . . . . g.48996
GATTTTTTAAACAGCTTCAGTACCCTTCTGAAACAGAGCAGCCATTGCCAAGAAGCAGGA c.540
D F L N S F S T L L K Q S S H C Q E A G p.180
. . . . . . g.49056
AAAAGGGGCAGGCTTGAGGACGCCTCCATTCTATGCCTGGATAAGGAGGATGATTTTCTA c.600
K R G R L E D A S I L C L D K E D D F L p.200
. . . . . . g.49116
CATGTTTACTACTTCTTCCCTAAGAGAACCACCTCCCTGATTCTTCCCGGCATCATAAAG c.660
H V Y Y F F P K R T T S L I L P G I I K p.220
. . . . . . g.49176
GCAGCTGCTCACGTATTATATGAAACGGAAGTGGAAGTGTCGTTAATGCCTCCCTGCTTC c.720
A A A H V L Y E T E V E V S L M P P C F p.240
. . . . . . g.49236
CATAATGATTGCAGCGAGTTTGTGAATCAGCCCTACTTGTTGTACTCCGTTCACATGAAA c.780
H N D C S E F V N Q P Y L L Y S V H M K p.260
. . . . . . g.49296
AGCACCAAGCCATCCCTGTCCCCCAGCAAACCCCAGTCCTCGCTGGTGATTCCCACATCG c.840
S T K P S L S P S K P Q S S L V I P T S p.280
. . . . . . g.49356
CTATTCTGCAAGACATTTCCATTCCATTTCATGTTTGACAAAGATATGACAATTCTGCAA c.900
L F C K T F P F H F M F D K D M T I L Q p.300
. . . . . . g.49416
TTTGGCAATGGCATCAGAAGGCTGATGAACAGGAGAGACTTTCAAGGAAAGCCTAATTTT c.960
F G N G I R R L M N R R D F Q G K P N F p.320
. . . . . . g.49476
GAAGAATACTTTGAAATTCTGACTCCAAAAATCAACCAGACGTTTAGCGGGATCATGACT c.1020
E E Y F E I L T P K I N Q T F S G I M T p.340
. . . . . . g.49536
ATGTTGAATATGCAGTTTGTTGTACGAGTGAGGAGATGGGACAACTCTGTGAAAAAATCT c.1080
M L N M Q F V V R V R R W D N S V K K S p.360
| 08 . . . . . . g.51442
TCAAGG | GTTATGGACCTCAAAGGCCAAATGATCTACATTGTTGAATCCAGTGCAATCTTG c.1140
S R | V M D L K G Q M I Y I V E S S A I L p.380
. . . . . . g.51502
TTTTTGGGGTCACCCTGTGTGGACAGATTAGAAGATTTTACAGGACGAGGGCTCTACCTC c.1200
F L G S P C V D R L E D F T G R G L Y L p.400
. . . . . . g.51562
TCAGACATCCCAATTCACAATGCACTGAGGGATGTGGTCTTAATAGGGGAACAAGCCCGA c.1260
S D I P I H N A L R D V V L I G E Q A R p.420
. . . . . . g.51622
GCTCAAGATGGCCTGAAGAAGAGGCTGGGGAAGCTGAAGGCTACCCTTGAGCAAGCCCAC c.1320
A Q D G L K K R L G K L K A T L E Q A H p.440
. . . . . . g.51682
CAAGCCCTGGAGGAGGAGAAGAAAAAGACAGTAGACCTTCTGTGCTCCATATTTCCCTGT c.1380
Q A L E E E K K K T V D L L C S I F P C p.460
. . . . . . g.51742
GAGGTTGCTCAGCAGCTGTGGCAAGGGCAAGTTGTGCAAGCCAAGAAGTTCAGTAATGTC c.1440
E V A Q Q L W Q G Q V V Q A K K F S N V p.480
. . . . . . g.51802
ACCATGCTCTTCTCAGACATCGTTGGGTTCACTGCCATCTGCTCCCAGTGCTCACCGCTG c.1500
T M L F S D I V G F T A I C S Q C S P L p.500
. . . . . . g.51862
CAGGTCATCACCATGCTCAATGCACTGTACACTCGCTTCGACCAGCAGTGTGGAGAGCTG c.1560
Q V I T M L N A L Y T R F D Q Q C G E L p.520
. | 09 . . . . . g.55497
GATGTCTACAAG | GTGGAGACCATTGGCGATGCCTATTGTGTAGCTGGGGGATTACACAAA c.1620
D V Y K | V E T I G D A Y C V A G G L H K p.540
. . . . . . g.55557
GAGAGTGATACTCATGCTGTTCAGATAGCGCTGATGGCCCTGAAGATGATGGAGCTCTCT c.1680
E S D T H A V Q I A L M A L K M M E L S p.560
. . . | 10 . . . g.60352
GATGAAGTTATGTCTCCCCATGGAGAACCTATCAAG | ATGCGAATTGGACTGCACTCTGGA c.1740
D E V M S P H G E P I K | M R I G L H S G p.580
. . . . . . g.60412
TCAGTTTTTGCTGGCGTCGTTGGAGTTAAAATGCCCCGTTACTGTCTTTTTGGAAACAAT c.1800
S V F A G V V G V K M P R Y C L F G N N p.600
. . . . . . g.60472
GTCACTCTGGCTAACAAATTTGAGTCCTGCAGTGTACCACGAAAAATCAATGTCAGCCCA c.1860
V T L A N K F E S C S V P R K I N V S P p.620
. | 11 . . . . . g.68369
ACAACTTACAG | ATTACTCAAAGACTGTCCTGGTTTCGTGTTTACCCCTCGATCAAGGGAG c.1920
T T Y R | L L K D C P G F V F T P R S R E p.640
. . . . . . g.68429
GAACTTCCACCAAACTTCCCTAGTGAAATCCCCGGAATCTGCCATTTTCTGGATGCTTAC c.1980
E L P P N F P S E I P G I C H F L D A Y p.660
. . . . . . g.68489
CAACAAGGAACAAACTCAAAACCATGCTTCCAAAAGAAAGATGTGGAAGATGGCAATGCC c.2040
Q Q G T N S K P C F Q K K D V E D G N A p.680
. . . g.68522
AATTTTTTAGGCAAAGCATCAGGAATAGATTAG c.2073
N F L G K A S G I D X p.690
. . . . . . g.68582
caacctatatacctatttataagtctttggggtttgactcattgaagatgtgtagagcct c.*60
. . . . . . g.68642
ctgaaagcactttagggattgtagatggctaacaagcagtattaaaatttcaggagccaa c.*120
. . . . . . g.68702
gtcacaatctttctcctgtttaacatgacaaaatgtatgtactcacttcagtacttcagc c.*180
. . . . . . g.68762
tcttcaagaaaaaaaaaaaaaaccttaaaaagctacttttgtgggagtatttctattata c.*240
. . . . . . g.68822
taaccagcacttactacctgtactcaaaattcagcaccttgtacatatatcagataattg c.*300
. . . . . . g.68882
tagtcaattgtacaaactgatggagtcacctgcaatctcatatcctggtggaatgccatg c.*360
. . . . . . g.68942
gttattaaagtgtgtttgtgatagtgtcgtcaaaaaaaaggtttttgaatagaaattaca c.*420
. . . . . . g.69002
ttctttgacaccctcagttctttcaaactttcaactctgcattttattgcattttctcat c.*480
. . . . . . g.69062
ttaactgttagtatatgtttgaatataggctgactttttttctctattgcactttcttct c.*540
. . . . . . g.69122
ttttttctttttagaaaataagcaattaggggttagatgcaatatgaatataaaatagtt c.*600
. . . . . . g.69182
ctgtaaataccaaatattatttttagttctggaagttaaaaatactctccatagtaacgt c.*660
. . . . . . g.69242
gtgttataataataaatatttcttttgtttgacttttttaaaattctacaatggtaaaag c.*720
. . . . . . g.69302
ctattttaatccatgttagcaatttaattcctattaattcattttactatcataatagca c.*780
. . . . . . g.69362
aagtattcagaataaaagaggtttatatcttctattaaaatgcagtaatactattcaaat c.*840
. . . . . . g.69422
ctaatttagctggaagcaacatgggagtaaagtaatcatccaggggacccaccataaagg c.*900
. . . . . . g.69482
acattggtaaaacatttacacacgtaaacacacgtgcaggcacacttggaacaatatgga c.*960
. . . . . . g.69542
cccacttcagcagacatcttctattgccatgctgagctgtttaaagttttaagaagaaaa c.*1020
. . . . . . g.69602
tctaagtatggaagtagaaaataagacttgttcttttggtggatatctcatttttcttga c.*1080
. . . . . . g.69662
gtatttgtgctgaacattttggtgtatgtctatgaactaagaatcaagtttttgtctcat c.*1140
. . . . . . g.69722
taaatatacatatatgaagtgtttttattctacttgaaatatcttgacttaaaaaaaacg c.*1200
. . . . . . g.69782
actgttagtattgatgaagcaaatgaggcagtgactacattatggaaatgtctaagtatt c.*1260
. . . . . . g.69842
ttttccggaacttcaactttttctttttgttttacataaacatttaagcagctaggaact c.*1320
. . . . . . g.69902
tttagttttagttaggtcagttgaagttctctggtgaactaaaaaatctacattttggtt c.*1380
. . . . . . g.69962
ggggataaagatttgattttaaaaacagcttgaatttaaagcaagaaaaagatgaacgtt c.*1440
. . . . . . g.70022
atagttttaaaatcaatattagcagagccatagataggctgagctcttatttggggttct c.*1500
. . . . . . g.70082
gagaaataactcagtttaaaacttctttaactgcctcccttagtacccaggctagcccat c.*1560
. . . . . . g.70142
ggtgacatcagggatattcattactgattggcctctagtattccaagggtactactatag c.*1620
. . . . . . g.70202
atattacaatgatgctgtttactaagtgataaccccgtatcttacaggactgactttgac c.*1680
. . . . . . g.70262
tcaataaaccactcagcctattattggaaagtgccataggccttgagaaagtatagttac c.*1740
. . . . . . g.70322
atcctcacaaatatatgaagttaagtcactacttacaaggaaaaaaaatgtaaatacatt c.*1800
. . . . . . g.70382
tttctttctggaaccgaactcttattatggggaaataatagaaataaagaaaatgtaaaa c.*1860
. . . . . . g.70442
gcatgaaatggaatgtagtcttgatcaaacatttcagcagacctcaatttgcttacaatc c.*1920
. . . . . . g.70502
tgtactcaaaaagtttataattcaatcagaattcaaaaagtattttgtgtgtttgtgatg c.*1980
. . . . . . g.70562
tattagcatatacacaaaacaaatgaggggaatgtatataatcttggtgaaaagttgtat c.*2040
. . . . . . g.70622
gggagttttttgtacgattcctgcaacttttctataaacgtggcattatatctaaataaa c.*2100
. g.70640
aaattaccaaaaaacata c.*2118
(downstream sequence)
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