(used for variant description)
(last modified July 18, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_003896.3 in the ST3GAL5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012807.1, covering ST3GAL5 transcript NM_003896.3.
(upstream sequence)
g.5009
cacgcgccc c.-121
. . . . . . g.5069
ctcctccgcatctgagcgggggagcggcggcccccagctgaatgggcgcgagagcggcgc c.-61
. . . . . . g.5129
tgggggcgggtgggggcgcggggtaccgggctggcggccggccggcgccccctcattagt c.-1
. . . . . . g.5189
ATGCGGACGAAGGCGGCGGGCTGCGCGGAGCGGCGTCCCCTGCAGCCGCGGACCGAGGCA c.60
M R T K A A G C A E R R P L Q P R T E A p.20
. . | 02 . . . . g.30587
GCGGCGGCACCTGCCGGCCGAG | CAATGCCAAGTGAGTACACCTATGTGAAACTGAGAAGT c.120
A A A P A G R A | M P S E Y T Y V K L R S p.40
. . . . . . g.30647
GATTGCTCGAGGCCTTCCCTGCAATGGTACACCCGAGCTCAAAGCAAGATGAGAAGGCCC c.180
D C S R P S L Q W Y T R A Q S K M R R P p.60
. . | 03 . . . . g.32776
AGCTTGTTATTAAAAGACATCCTCAA | ATGTACATTGCTTGTGTTTGGAGTGTGGATCCTT c.240
S L L L K D I L K | C T L L V F G V W I L p.80
. . . . . . g.32836
TATATCCTCAAGTTAAATTATACTACTGAAGAATGTGACATGAAAAAAATGCATTATGTG c.300
Y I L K L N Y T T E E C D M K K M H Y V p.100
. | 04 . . . . g.45872
GACCCTGACCATGTAAAG | AGAGCTCAGAAATATGCTCAGCAAGTCTTGCAGAAGGAATGT c.360
D P D H V K | R A Q K Y A Q Q V L Q K E C p.120
. . . . . . g.45932
CGTCCCAAGTTTGCCAAGACATCAATGGCGCTGTTATTTGAGCACAGGTATAGCGTGGAC c.420
R P K F A K T S M A L L F E H R Y S V D p.140
. . . . . . g.45992
TTACTCCCTTTTGTGCAGAAGGCCCCCAAAGACAGTGAAGCTGAGTCCAAGTACGATCCT c.480
L L P F V Q K A P K D S E A E S K Y D P p.160
. . . . . . g.46052
CCTTTTGGGTTCCGGAAGTTCTCCAGTAAAGTCCAGACCCTCTTGGAACTCTTGCCAGAG c.540
P F G F R K F S S K V Q T L L E L L P E p.180
. . . . . . g.46112
CACGACCTCCCTGAACACTTGAAAGCCAAGACCTGTCGGCGCTGTGTGGTTATTGGAAGC c.600
H D L P E H L K A K T C R R C V V I G S p.200
. . . . . . g.46172
GGAGGAATACTGCACGGATTAGAACTGGGCCACACCCTGAACCAGTTCGATGTTGTGATA c.660
G G I L H G L E L G H T L N Q F D V V I p.220
| 05 . . . . . . g.47529
AG | GTTAAACAGTGCACCAGTTGAGGGATATTCAGAACATGTTGGAAATAAAACTACTATA c.720
R | L N S A P V E G Y S E H V G N K T T I p.240
. . . . . . g.47589
AGGATGACTTATCCAGAGGGCGCACCACTGTCTGACCTTGAATATTATTCCAATGACTTA c.780
R M T Y P E G A P L S D L E Y Y S N D L p.260
. . . . . . g.47649
TTTGTTGCTGTTTTATTTAAGAGTGTTGATTTCAACTGGCTTCAAGCAATGGTAAAAAAG c.840
F V A V L F K S V D F N W L Q A M V K K p.280
| 06 . . . . . g.49531
GAAACCCTG | CCATTCTGGGTACGACTCTTCTTTTGGAAGCAGGTGGCAGAAAAAATCCCA c.900
E T L | P F W V R L F F W K Q V A E K I P p.300
. . . . . . g.49591
CTGCAGCCAAAACATTTCAGGATTTTGAATCCAGTTATCATCAAAGAGACTGCCTTTGAC c.960
L Q P K H F R I L N P V I I K E T A F D p.320
. . . . | 07 . g.53654
ATCCTTCAGTACTCAGAGCCTCAGTCAAGGTTCTGGGGCCGAGATAAG | AACGTCCCCACA c.1020
I L Q Y S E P Q S R F W G R D K | N V P T p.340
. . . . . . g.53714
ATCGGTGTCATTGCCGTTGTCTTAGCCACACATCTGTGCGATGAAGTCAGTTTGGCGGGT c.1080
I G V I A V V L A T H L C D E V S L A G p.360
. . . . . . g.53774
TTTGGATATGACCTCAATCAACCCAGAACACCTTTGCACTACTTCGACAGTCAATGCATG c.1140
F G Y D L N Q P R T P L H Y F D S Q C M p.380
. . . . . . g.53834
GCTGCTATGAACTTTCAGACCATGCATAATGTGACAACGGAAACCAAGTTCCTCTTAAAG c.1200
A A M N F Q T M H N V T T E T K F L L K p.400
. . . . . g.53891
CTGGTCAAAGAGGGAGTGGTGAAAGATCTCAGTGGAGGCATTGATCGTGAATTTTGA c.1257
L V K E G V V K D L S G G I D R E F X p.418
. . . . . . g.53951
acacagaaaacctcagttgaaaatgcaactctaactctgagagctgtttttgacagcctt c.*60
. . . . . . g.54011
cttgatgtatttctccatcctgcagatactttgaagtgcagctcatgtttttaactttta c.*120
. . . . . . g.54071
atttaaaaacacaaaaaaaattttagctcttcccactttttttttcctatttatttgagg c.*180
. . . . . . g.54131
tcagtgtttgtttttgcacaccattttgtaaatgaaacttaagaattgaattggaaagac c.*240
. . . . . . g.54191
ttctcaaagagaattgtatgtaacgatgttgtattgatttttaagaaagtaatttaattt c.*300
. . . . . . g.54251
gtaaaacttctgctcgtttacactgcacattgaatacaggtaactaattggaaggagagg c.*360
. . . . . . g.54311
ggaggtcactcttttgatggtggccctgaacctcattctggttccctgctgcgctgcttg c.*420
. . . . . . g.54371
gtgtgacccacggaggatccactcccaggatgacgtgctccgtagctctgctgctgatac c.*480
. . . . . . g.54431
tgggtctgcgatgcagcggcgtgaggcctgggctggttggagaaggtcacaacccttctc c.*540
. . . . . . g.54491
tgttggtctgccttctgctgaaagactcgagaaccaaccagggaagctgtcctggaggtc c.*600
. . . . . . g.54551
cctggtcggagagggacatagaatctgtgacctctgacaactgtgaagccaccctgggct c.*660
. . . . . . g.54611
acagaaaccacagtcttcccagcaattattacaattcttgaattccttggggatttttta c.*720
. . . . . . g.54671
ctgccctttcaaagcacttaagtgttagatctaacgtgttccagtgtctgtctgaggtga c.*780
. . . . . . g.54731
cttaaaaaatcagaacaaaacttctattatccagagtcatgggagagtacaccctttcca c.*840
. . . . . . g.54791
ggaataatgttttgggaaacactgaaatgaaatcttcccagtattataaattgtgtattt c.*900
. . . . . . g.54851
aaaaaaaagaaacttttctgaatgcctacctggcggtgtataccaggcagtgtgccagtt c.*960
. . . g.54887
taaaaagatgaaaaagaataaaaacttttgaggaac c.*996
(downstream sequence)
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