(used for variant description)
(last modified October 24, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_033409.3 in the SLC52A3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering SLC52A3 transcript NM_033409.3.
(upstream sequence)
. . . g.12439
gtgagggaattccgtgtgtgggaaccgtggggaggagct c.-301
. . . . . . g.12499
gccaggattcaggagtttcctgggtgaggcgtggccacaacggacactcctgctttgtac c.-241
. . . . . . g.12559
tagaaggaagaagtatggagttaaagactgcagcgtgaactgaggagtcccggacaggcc c.-181
. . . . . . g.12619
gcttgctgcagaggatccagtccagatcccaggagagcccctctgccccttcggacctcg c.-121
. . . . . . g.12679
tctcccatctacaaaacgtgaagattggcccagttagcgtgtctctacaaaaaggtgcat c.-61
. | 02 . . . . g.15210
ataccactg | ccccgctgcaggctgatctgagaaagcctctggcccagggcagataccgcc c.-1
. . . . . . g.15270
ATGGCCTTCCTGATGCACCTGCTGGTCTGCGTCTTCGGAATGGGCTCCTGGGTGACCATC c.60
M A F L M H L L V C V F G M G S W V T I p.20
. . . . . . g.15330
AATGGGCTCTGGGTAGAGCTGCCCCTGCTGGTGATGGAGCTGCCCGAGGGCTGGTACCTG c.120
N G L W V E L P L L V M E L P E G W Y L p.40
. . . . . . g.15390
CCCTCCTACCTCACGGTGGTCATCCAGCTGGCCAACATCGGGCCCCTCCTGGTCACCCTG c.180
P S Y L T V V I Q L A N I G P L L V T L p.60
. . . . . . g.15450
CTCCATCACTTCCGGCCCAGCTGCCTTTCCGAAGTGCCCATCATCTTCACCCTGCTGGGC c.240
L H H F R P S C L S E V P I I F T L L G p.80
. . . . . . g.15510
GTGGGAACCGTCACCTGCATCATCTTTGCCTTCCTCTGGAATATGACCTCCTGGGTGCTG c.300
V G T V T C I I F A F L W N M T S W V L p.100
. . . . . . g.15570
GACGGCCACCACAGCATCGCCTTCTTGGTCCTCACCTTCTTCCTGGCCCTGGTGGACTGC c.360
D G H H S I A F L V L T F F L A L V D C p.120
. . . . . . g.15630
ACCTCTTCAGTGACCTTCCTGCCGTTCATGAGCCGGCTGCCCACCTACTACCTCACCACC c.420
T S S V T F L P F M S R L P T Y Y L T T p.140
. . . . . . g.15690
TTCTTTGTGGGTGAAGGACTCAGCGGCCTCTTGCCCGCCCTGGTGGCTCTTGCCCAGGGC c.480
F F V G E G L S G L L P A L V A L A Q G p.160
. . . . . . g.15750
TCCGGTCTCACTACCTGCGTCAATGTCACTGAGATATCAGACAGCGTACCAAGCCCTGTA c.540
S G L T T C V N V T E I S D S V P S P V p.180
. . | 03. . . . g.17014
CCCACGAGGGAGACTGACATCGCACAG | GGAGTTCCCAGAGCTTTGGTGTCCGCCCTCCCC c.600
P T R E T D I A Q | G V P R A L V S A L P p.200
. . . . . . g.17074
GGAATGGAAGCACCCTTGTCCCACCTGGAGAGCCGCTACCTTCCCGCCCACTTCTCACCC c.660
G M E A P L S H L E S R Y L P A H F S P p.220
. . . . . . g.17134
CTGGTCTTCTTCCTCCTCCTATCCATCATGATGGCCTGCTGCCTCGTGGCGTTCTTTGTC c.720
L V F F L L L S I M M A C C L V A F F V p.240
. . . . . . g.17194
CTCCAGCGTCAACCCAGGTGCTGGGAGGCTTCCGTGGAAGACCTCCTCAATGACCAGGTC c.780
L Q R Q P R C W E A S V E D L L N D Q V p.260
. . . . . . g.17254
ACCCTCCACTCCATCCGGCCGCGGGAAGAGAATGACTTGGGCCCTGCAGGCACGGTGGAC c.840
T L H S I R P R E E N D L G P A G T V D p.280
. . . . . . g.17314
AGCAGCCAGGGCCAGGGGTATCTAGAGGAGAAAGCAGCCCCCTGCTGCCCGGCGCACCTG c.900
S S Q G Q G Y L E E K A A P C C P A H L p.300
. . . . . . g.17374
GCCTTCATCTATACCCTGGTGGCCTTCGTCAACGCGCTCACCAACGGCATGCTGCCCTCT c.960
A F I Y T L V A F V N A L T N G M L P S p.320
. . . . . . g.17434
GTGCAGACCTACTCCTGCCTGTCCTATGGGCCAGTTGCCTACCACCTGGCTGCCACCCTC c.1020
V Q T Y S C L S Y G P V A Y H L A A T L p.340
. . . . . | 04 . g.19167
AGCATTGTGGCCAACCCTCTTGCCTCGTTGGTCTCCATGTTCCTGCCTAACAG | GTCTCTG c.1080
S I V A N P L A S L V S M F L P N R | S L p.360
. . . . . . g.19227
CTGTTCCTGGGGGTCCTCTCCGTGCTTGGGACCTGCTTTGGGGGCTACAACATGGCCATG c.1140
L F L G V L S V L G T C F G G Y N M A M p.380
. . . . . | 05. g.19749
GCGGTGATGAGCCCCTGCCCCCTCTTGCAGGGCCACTGGGGTGGGGAAGTCCTCATT | GTG c.1200
A V M S P C P L L Q G H W G G E V L I | V p.400
. . . . . . g.19809
GCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAGTTACGTCAAGGTGATGCTGGGCGTGGTC c.1260
A S W V L F S G C L S Y V K V M L G V V p.420
. . . . . . g.19869
CTGCGCGACCTCAGCCGCAGCGCCCTCTTGTGGTGCGGGGCGGCGGTGCAGCTGGGCTCG c.1320
L R D L S R S A L L W C G A A V Q L G S p.440
. . . . . . g.19929
CTGCTCGGAGCGCTGCTCATGTTCCCTCTGGTCAACGTGCTGCGGCTCTTCTCGTCCGCG c.1380
L L G A L L M F P L V N V L R L F S S A p.460
. . . g.19959
GACTTCTGCAATCTGCACTGTCCAGCCTAG c.1410
D F C N L H C P A X p.469
. . . . . . g.20019
gcaggccgccgaccccgcccccatcgctcacggacggaactggggtccagagaggccagg c.*60
. . . . . . g.20079
tcacagagcaaggggcaggaacagagagacagagcctgagtaattgaatcatgaacgcaa c.*120
. . . . . . g.20139
gtgcccactggggactgtggggaagatggcacctggaaatgcaaggtgcggctctatccc c.*180
. . . . . . g.20199
caactctgtgtcacactacctgtgacgaccagctcagatctcctttgctttgactctcaa c.*240
. . . . . . g.20259
gagaggactgatttgcagcatctagctggaggcaggcccaagggtgttagaagggaaaca c.*300
. . . . . . g.20319
gctgggacagccggctgtcccttcaggctgtgtgaccttgggaaagtcatttggcttctc c.*360
. . . . . . g.20379
tgtgcctgtttcttcatgcatgcagtggggattccagtaagtaccaactacctcacaggc c.*420
. . . . . . g.20439
atggcacggaggcaaaaggaaaaagcagcccgcatcaagcaagccctcctgggccacctg c.*480
. . . . . . g.20499
ctgatctgacagtccatcgtagtaacaagagtggcagtctgcacaacctagaagtggcca c.*540
. . . . . . g.20559
gaagggttgagacacgcccctgccctctctcctttgcccctcagtctcacagaggggctt c.*600
. . . . . . g.20619
ctacaagacaagcagataacgatagaatcttgggcatcttggctttcggattctcagtgt c.*660
. . . . . . g.20679
ggagggacgtagtaccccacacaccccttcctgtcatccttcctggcccataaagcccac c.*720
. . . . . . g.20739
tagttggagagtaagtaccctcctggaagccgggagagatgatttgctggtggggctggg c.*780
. . . . . . g.20799
gaaggcccatccctgagcctctgaaagtgaactccccgaccaggttggggaccagacatg c.*840
. . . . . . g.20859
cagagcccctggaagtattctctcaaatggaggcaacagaggtgattgttattttgtttt c.*900
. . . . g.20905
agtttctgtttttcatttttttaaataaaggcattccctgctttta c.*946
(downstream sequence)
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