(used for variant description)
(last modified July 31, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_014251.2 in the SLC25A13 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012247.1, covering SLC25A13 transcript NM_014251.2.
(upstream sequence)
. g.5011
aatgggcgggc c.-181
. . . . . . g.5071
agcatccacatgacccgcgccggcgggagggcgtggggaggcaggccaggaacgcacgct c.-121
. . . . . . g.5131
gcctggccgtatcgccgcccccaccgccgccgccgccgggactagaagtgagccgcccgg c.-61
. . . . . . g.5191
gtcccaaacgccagccagccagtcagtgggtcccgcagtcgcccgcaaccggggcgaatc c.-1
. | 02 . . . . . g.30241
ATGGCGGCCGCCAAG | GTGGCTTTAACCAAGAGAGCAGATCCAGCTGAGCTTAGAACAATA c.60
M A A A K | V A L T K R A D P A E L R T I p.20
| 03 . . . . . g.49860
TTTTTGAAG | TATGCAAGCATTGAGAAAAACGGTGAATTTTTCATGTCCCCCAATGACTTT c.120
F L K | Y A S I E K N G E F F M S P N D F p.40
. . . . . . g.49920
GTCACTCGATACTTGAACATTTTTGGAGAAAGCCAGCCTAATCCAAAGACTGTGGAACTT c.180
V T R Y L N I F G E S Q P N P K T V E L p.60
. . . | 04 . . . g.92258
TTAAGTGGAGTGGTGGATCAGACCAAAGATGG | ATTAATATCTTTTCAAGAATTTGTTGCC c.240
L S G V V D Q T K D G | L I S F Q E F V A p.80
. . . . . . g.92318
TTTGAATCTGTCCTGTGTGCCCCTGATGCTTTGTTTATGGTAGCCTTTCAGCTGTTTGAC c.300
F E S V L C A P D A L F M V A F Q L F D p.100
. . | 05 . . . g.118202
AAAGCTGGCAAAGGAGAAGTAACTTTTG | AGGATGTTAAGCAAGTTTTTGGACAGACCACA c.360
K A G K G E V T F E | D V K Q V F G Q T T p.120
. . . . . . g.118262
ATTCATCAACATATTCCATTTAACTGGGATTCAGAATTTGTGCAACTACATTTTGGAAAA c.420
I H Q H I P F N W D S E F V Q L H F G K p.140
. . . . | 06 . g.133976
GAAAGAAAAAGACACCTGACATATGCGGAATTTACTCAGTTTTTATTG | GAAATACAACTG c.480
E R K R H L T Y A E F T Q F L L | E I Q L p.160
. . . . . . g.134036
GAGCACGCAAAGCAAGCCTTTGTGCAACGGGACAATGCTAGGACTGGGAGAGTCACAGCC c.540
E H A K Q A F V Q R D N A R T G R V T A p.180
. . . . . . g.134096
ATCGACTTCCGAGACATCATGGTCACCATCCGCCCCCATGTCTTGACTCCTTTTGTAGAA c.600
I D F R D I M V T I R P H V L T P F V E p.200
. | 07 . . . . . g.135945
GAATGTCTAGTAGCT | GCTGCTGGAGGTACCACATCCCATCAAGTTAGTTTCTCCTATTTT c.660
E C L V A | A A G G T T S H Q V S F S Y F p.220
. . . . . . g.136005
AATGGATTTAATTCGCTCCTTAACAACATGGAACTCATTAGAAAGATCTATAGCACTCTG c.720
N G F N S L L N N M E L I R K I Y S T L p.240
. . . | 08 . . . g.137499
GCTGGCACCAGGAAAGATGTTGAAGTGACTAAGG | AGGAGTTTGTTCTGGCAGCTCAGAAA c.780
A G T R K D V E V T K E | E F V L A A Q K p.260
. . . . . . g.137559
TTTGGTCAGGTTACACCCATGGAAGTTGACATCTTGTTTCAGTTAGCAGATTTATATGAG c.840
F G Q V T P M E V D I L F Q L A D L Y E p.280
| 09 . . . . . g.137821
CCAAGGGG | ACGTATGACCTTAGCAGACATTGAACGGATTGCTCCTCTGGAAGAGGGAACT c.900
P R G | R M T L A D I E R I A P L E E G T p.300
. . . | 10 . . . g.142163
CTGCCCTTTAACTTGGCTGAGGCCCAGAGGCAG | AAGGCCTCAGGTGATTCAGCTCGACCA c.960
L P F N L A E A Q R Q | K A S G D S A R P p.320
. . . . . | 11 g.142714
GTTCTTCTACAAGTTGCAGAGTCGGCCTACAGGTTTGGTCTGGGTTCTGTTGCTGGAG | CT c.1020
V L L Q V A E S A Y R F G L G S V A G A | p.340
. . . . . . g.142774
GTTGGAGCCACTGCTGTGTATCCTATCGATCTTGTAAAAACTCGAATGCAGAACCAACGA c.1080
V G A T A V Y P I D L V K T R M Q N Q R p.360
. . . . . . g.142834
TCAACTGGCTCTTTTGTGGGAGAACTCATGTATAAAAACAGCTTTGACTGTTTTAAGAAA c.1140
S T G S F V G E L M Y K N S F D C F K K p.380
. . . | 12. . . g.155646
GTGCTACGCTATGAAGGCTTCTTTGGACTGTATAGAG | GTCTGTTGCCACAGTTATTGGGA c.1200
V L R Y E G F F G L Y R G | L L P Q L L G p.400
. . . | 13 . . . g.157052
GTTGCCCCAGAGAAGGCCATAAAACTTACA | GTGAACGATTTTGTGAGGGATAAATTTATG c.1260
V A P E K A I K L T | V N D F V R D K F M p.420
. . . . . | 14 . g.180460
CACAAAGATGGTTCGGTCCCACTTGCAGCAGAAATTCTTGCTGGAGGCTGC | GCTGGAGGC c.1320
H K D G S V P L A A E I L A G G C | A G G p.440
. . . . . . g.180520
TCCCAGGTGATTTTCACAAATCCTTTAGAAATCGTCAAGATCCGTTTGCAAGTGGCAGGA c.1380
S Q V I F T N P L E I V K I R L Q V A G p.460
. . . . . . g.180580
GAAATCACCACTGGTCCTCGAGTCAGTGCTCTGTCTGTCGTGCGGGACCTGGGGTTTTTT c.1440
E I T T G P R V S A L S V V R D L G F F p.480
. | 15 . . . . . g.195314
GGGATCTACAAG | GGTGCCAAAGCATGCTTTCTGCGGGACATTCCTTTCTCGGCCATCTAC c.1500
G I Y K | G A K A C F L R D I P F S A I Y p.500
. . . . . . g.195374
TTTCCGTGCTATGCTCATGTGAAGGCTTCCTTTGCAAATGAAGATGGGCAGGTTAGCCCA c.1560
F P C Y A H V K A S F A N E D G Q V S P p.520
. . . | 16 . . . g.205179
GGAAGCCTGCTCTTAGCTGGTGCCATAGCTG | GTATGCCTGCAGCATCTTTAGTGACCCCT c.1620
G S L L L A G A I A G | M P A A S L V T P p.540
. . . . . . g.205239
GCTGATGTTATCAAGACGAGATTACAGGTGGCTGCCCGGGCTGGCCAAACCACTTACAGC c.1680
A D V I K T R L Q V A A R A G Q T T Y S p.560
. . . . . . g.205299
GGAGTGATAGACTGCTTTAGAAAGATACTGCGTGAAGAAGGACCAAAAGCTCTGTGGAAG c.1740
G V I D C F R K I L R E E G P K A L W K p.580
. | 17 . . . . . g.205452
GGAGCTGGTG | CTCGTGTATTTCGATCCTCACCCCAGTTTGGTGTAACTTTGCTGACTTAC c.1800
G A G A | R V F R S S P Q F G V T L L T Y p.600
. . . . | 18 . . g.205789
GAATTGCTACAGCGATGGTTCTACATTGATTTTGGAGGAGT | AAAACCCATGGGATCAGAG c.1860
E L L Q R W F Y I D F G G V | K P M G S E p.620
. . . . . . g.205849
CCAGTTCCTAAATCCAGGATCAACCTGCCTGCCCCGAATCCTGATCACGTTGGGGGCTAC c.1920
P V P K S R I N L P A P N P D H V G G Y p.640
. . . . . . g.205909
AAACTGGCAGTTGCTACATTTGCAGGGATTGAAAACAAATTTGGACTTTACCTACCTCTC c.1980
K L A V A T F A G I E N K F G L Y L P L p.660
. . . . g.205957
TTCAAGCCATCAGTATCTACCTCAAAGGCTATTGGTGGAGGCCCATAG c.2028
F K P S V S T S K A I G G G P X p.675
. . . . . . g.206017
gaagatcagccctgggatagtgctgtctttttgtgggtactgcagtaaagaacatccctc c.*60
. . . . . . g.206077
ctgggaatgaagcaatgcttcatcccttttacgtccatctcttgtttaaattcaagtcca c.*120
. . . . . . g.206137
ggcttttttatcatgtgaaatcattcattttctgggtgttttcttaaccagatcattgtg c.*180
. . . . . . g.206197
aaattattcataattattatttggccctctgcccagaaacctttgtttgcatctgaaaat c.*240
. . . . . . g.206257
tgatgggatttggtcaacactaacatgatttggggaaaggagcaagtcagaatagaaatt c.*300
. . . . . . g.206317
agtactcccctccttgaactaggattgtagtcccaaagaggctactgtaaggcaatcatg c.*360
. . . . . . g.206377
gtgctcagagcagtgtttcgtgtgtgttttaaactggtaggaaactaggtgcatatttat c.*420
. . . . . . g.206437
aaaaataaaaaacactgggagaaatgaaaaaatatatatcaaatatattcagcctggctt c.*480
. . . . . . g.206497
caaattgtaagcatgcacaaattctgtctctggattatattatgaagcttttatgtgaaa c.*540
. . . . . . g.206557
catgtttctttgtaatgaaaaccacattggagatgtttagtaatcatattgttactggta c.*600
. . . . . . g.206617
ccaagactactagggaaatgcctttgtactttagggaagtacttttggcattttactgta c.*660
. . . . . . g.206677
cagacagaaaaaactgagatgtagcccctctcctggaagtgctaattttgaaaaactgct c.*720
. . . . . . g.206737
catatgatgtacatgtactgattactgcctattttaataaacactcttgaaaaatgcatg c.*780
. . . . . . g.206797
ttgccctgttgctgcctgccctattctcctcatctccccatcattggtacccacttgctt c.*840
. . . . . . g.206857
ttaaaatccactttatcttgaataatgtaagacaaatatgttctgacataagtatttaat c.*900
. . . . . . g.206917
tcatgttgccttgcataatggtcagaggcgcatgaatttgtgaaggtggaaataaactat c.*960
. g.206928
ttgtaaagtga c.*971
(downstream sequence)
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