(used for variant description)
(last modified August 22, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_024642.4 in the GALNT12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028218.1, covering GALNT12 transcript NM_024642.4.
(upstream sequence)
. . . . . . g.60
ATGTGGGGGCGCACGGCGCGGCGGCGCTGCCCGCGGGAACTGCGGCGCGGCCGGGAGGCG c.60
M W G R T A R R R C P R E L R R G R E A p.20
. . . . . . g.120
CTGTTGGTGCTCCTGGCGCTACTGGCGTTGGCCGGGCTGGGCTCGGTGCTGCGGGCGCAG c.120
L L V L L A L L A L A G L G S V L R A Q p.40
. . . . . . g.180
CGTGGGGCCGGGGCCGGGGCTGCCGAGCCGGGACCCCCGCGCACCCCGCGCCCCGGGCGG c.180
R G A G A G A A E P G P P R T P R P G R p.60
. . . . . . g.240
CGCGAGCCGGTCATGCCGCGGCCGCCGGTGCCGGCGAACGCGCTGGGCGCGCGGGGCGAG c.240
R E P V M P R P P V P A N A L G A R G E p.80
. . . . . . g.300
GCGGTGCGGCTGCAGCTGCAGGGCGAGGAGCTGCGGCTGCAGGAGGAGAGCGTGCGGCTG c.300
A V R L Q L Q G E E L R L Q E E S V R L p.100
. . . . . . g.360
CACCAGATTAACATCTACCTCAGCGACCGCATCTCACTGCACCGCCGCCTGCCCGAGCGC c.360
H Q I N I Y L S D R I S L H R R L P E R p.120
. | 02 . . . . . g.15606
TGGAACCCGCT | GTGCAAAGAGAAGAAATATGATTATGATAATTTGCCCAGGACATCTGTT c.420
W N P L | C K E K K Y D Y D N L P R T S V p.140
. . . . . . g.15666
ATCATAGCATTTTATAATGAAGCCTGGTCAACTCTCCTTCGGACAGTTTACAGTGTCCTT c.480
I I A F Y N E A W S T L L R T V Y S V L p.160
. . . . . . g.15726
GAGACATCCCCGGATATCCTGCTAGAAGAAGTGATCCTTGTAGATGACTACAGTGATAGA c.540
E T S P D I L L E E V I L V D D Y S D R p.180
| 03 . . . . . . g.19112
G | AGCACCTGAAGGAGCGCTTGGCCAATGAGCTTTCGGGACTGCCCAAGGTGCGCCTGATC c.600
E | H L K E R L A N E L S G L P K V R L I p.200
. . . . . . g.19172
CGCGCCAACAAGAGAGAGGGCCTGGTGCGAGCCCGGCTGCTGGGGGCGTCTGCGGCGAGG c.660
R A N K R E G L V R A R L L G A S A A R p.220
. . . . . . g.19232
GGCGATGTTCTGACCTTCCTGGACTGTCACTGTGAGTGCCACGAAGGGTGGCTGGAGCCG c.720
G D V L T F L D C H C E C H E G W L E P p.240
. | 04 . . . . . g.24122
CTGCTGCAGAG | GATCCATGAAGAGGAGTCGGCAGTGGTGTGCCCGGTGATTGATGTGATC c.780
L L Q R | I H E E E S A V V C P V I D V I p.260
. . . . . . g.24182
GACTGGAACACCTTCGAATACCTGGGGAACTCCGGGGAGCCCCAGATCGGCGGTTTCGAC c.840
D W N T F E Y L G N S G E P Q I G G F D p.280
. . . . . . g.24242
TGGAGGCTGGTGTTCACGTGGCACACAGTTCCTGAGAGGGAGAGGATACGGATGCAATCC c.900
W R L V F T W H T V P E R E R I R M Q S p.300
. | 05. . . . . g.27593
CCCGTCGATGTCATCAG | GTCTCCAACAATGGCTGGTGGGCTGTTTGCTGTGAGTAAGAAA c.960
P V D V I R | S P T M A G G L F A V S K K p.320
. . . . . . g.27653
TATTTTGAATATCTGGGGTCTTATGATACAGGAATGGAAGTTTGGGGAGGAGAAAACCTC c.1020
Y F E Y L G S Y D T G M E V W G G E N L p.340
. | 06 . . . . . g.29318
GAATTTTCCTTTAGG | ATCTGGCAGTGTGGTGGGGTTCTGGAAACACACCCATGTTCCCAT c.1080
E F S F R | I W Q C G G V L E T H P C S H p.360
. . . . . . g.29378
GTTGGCCATGTTTTCCCCAAGCAAGCTCCCTACTCCCGCAACAAGGCTCTGGCCAACAGT c.1140
V G H V F P K Q A P Y S R N K A L A N S p.380
. . . . . . g.29438
GTTCGTGCAGCTGAAGTATGGATGGATGAATTTAAAGAGCTCTACTACCATCGCAACCCC c.1200
V R A A E V W M D E F K E L Y Y H R N P p.400
. | 07 . . . . . g.32351
CGTGCCCGCTTG | GAACCTTTTGGGGATGTGACAGAGAGGAAGCAGCTCCGGGACAAGCTC c.1260
R A R L | E P F G D V T E R K Q L R D K L p.420
. . . . . . g.32411
CAGTGTAAAGACTTCAAGTGGTTCTTGGAGACTGTGTATCCAGAACTGCATGTGCCTGAG c.1320
Q C K D F K W F L E T V Y P E L H V P E p.440
. . | 08 . . . . g.36433
GACAGGCCTGGCTTCTTCGGGATG | CTCCAGAACAAAGGACTAACAGACTACTGCTTTGAC c.1380
D R P G F F G M | L Q N K G L T D Y C F D p.460
. . . . . . g.36493
TATAACCCTCCCGATGAAAACCAGATTGTGGGACACCAGGTCATTCTGTACCTCTGTCAT c.1440
Y N P P D E N Q I V G H Q V I L Y L C H p.480
. | 09 . . . . g.38320
GGGATGGGCCAGAATCAG | TTTTTCGAGTACACGTCCCAGAAAGAAATACGCTATAACACC c.1500
G M G Q N Q | F F E Y T S Q K E I R Y N T p.500
. . . . . . g.38380
CACCAGCCTGAGGGCTGCATTGCTGTGGAAGCAGGAATGGATACCCTTATCATGCATCTC c.1560
H Q P E G C I A V E A G M D T L I M H L p.520
. . . . | 10 . . g.41268
TGCGAAGAAACTGCCCCAGAGAATCAGAAGTTCATCTTGCAGGAG | GATGGATCTTTATTT c.1620
C E E T A P E N Q K F I L Q E | D G S L F p.540
. . . . . . g.41328
CACGAACAGTCCAAGAAATGTGTCCAGGCTGCGAGGAAGGAGTCGAGTGACAGTTTCGTT c.1680
H E Q S K K C V Q A A R K E S S D S F V p.560
. . . . . . g.41388
CCACTCTTACGAGACTGCACCAACTCGGATCATCAGAAATGGTTCTTCAAAGAGCGCATG c.1740
P L L R D C T N S D H Q K W F F K E R M p.580
g.41394
TTATGA c.1746
L X p.581
. . . . . . g.41454
agcctcgtgtatcaaggagcccatcgaaggagactgtggagccaggactctgcccaacaa c.*60
. . . . . . g.41514
agacttagctaagcagtgaccagaacccaccaaaaactaggctgcattgctttgaagagg c.*120
. . . . . . g.41574
caatcattttgccatttgtgaaagttgtgttggatttagtaaaaatgtgaataagctttg c.*180
. . . . . . g.41634
tacttattttgagaactttttaaatgttccaaaataccctattttcaaagggtaatcgta c.*240
. . . . . . g.41694
agatgttaacccttggtatttagaaaattaaaaccttataatatttttctatcaagatgt c.*300
. . . . . . g.41754
atattttacagtcgtgccttttactctcattagcaaaaaagataaagattttattttggt c.*360
. . . . . . g.41814
atttacaagaattcccaggtacgaagatatctgcatgggtggaaatcaggttcaagcaac c.*420
. . . . . . g.41874
gtactttgcattaactgataatacctcagctgcggggttaaagttttcccagtatagaga c.*480
. . . . . . g.41934
gactgtcactaggaacattgtattgatttattcaggtcattgagatcttctagatgtatt c.*540
. . . . . . g.41994
ttaaaaagaatgctttttggttatgtgttgctaccacagttaacactccataatgttcat c.*600
. . . . . . g.42054
gtcagccaaagaggactaaccaaagctgaaatctcagagaacaatttgctttactaagct c.*660
. . . . . . g.42114
gagtcaacttgagagcgaacttctaacaatgccgcactgtagtgtggctggttctaccac c.*720
. . . . . . g.42174
tatgactttaaaacatgtttatatcatttttaatttttatgatacggtagtgtcagggag c.*780
. . . . . . g.42234
aaatgtaatgttctatatgaaattcctttttcaagtttgttcattaataacagttattaa c.*840
. . . . . . g.42294
tttaaatcagcgttagagtttgtgctgctgcaactgctgtgaaaatttctctgagtaatt c.*900
. . . . . . g.42354
ctgatttgtgaatgatcccagaccaaccctgagattttgtcaacctgattaagtcaatat c.*960
. . g.42383
gaatgattaaaaagatgtgagaacactga c.*989
(downstream sequence)
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