(used for variant description)
(last modified November 6, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_213651.2 in the SLC25A24 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032752.1, covering SLC25A24 transcript NM_213651.2.
(upstream sequence)
g.12557
aggatgag c.-181
. . . . . . g.12617
ccctctccttccagagctttaaccgatgaaggtgcattgtgtttggcgcccctgaggagg c.-121
. . . . . . g.12677
atgctgtcttaggcctcttcccactggacgtgtgtggtgggcagagatcccgttcgtcgg c.-61
. . . . . . g.12737
tcgcacttccaccccgctggggctcactcaggccgcggagctgcgagggagacatcctcg c.-1
. . . . . . g.12797
ATGGACTCCCTCTACGGAGATCTCTTTTGGTACCTGGACTATAACAAGGATGGGACCTTG c.60
M D S L Y G D L F W Y L D Y N K D G T L p.20
. . . . . . g.12857
GACATTTTTGAGCTTCAGGAAGGCCTGGAGGATGTAGGGGCCATTCAATCTCTAGAGGAA c.120
D I F E L Q E G L E D V G A I Q S L E E p.40
| 02 . . . . . . g.19458
GCGAAG | AAAATTTTTACTACTGGAGATGTCAACAAAGATGGGAAGCTGGATTTTGAAGAA c.180
A K | K I F T T G D V N K D G K L D F E E p.60
. . . . . . g.19518
TTTATGAAGTACCTTAAAGACCATGAGAAGAAAATGAAATTGGCATTTAAGAGTTTAGAC c.240
F M K Y L K D H E K K M K L A F K S L D p.80
. | 03 . . . . . g.23377
AAAAATAATGATG | GAAAAATTGAGGCTTCAGAAATTGTCCAGTCTCTCCAGACACTGGGT c.300
K N N D G | K I E A S E I V Q S L Q T L G p.100
. . . . | 04 . . g.44084
CTGACTATTTCTGAACAACAAGCAGAGTTGATTCTTCAAAG | CATTGATGTTGATGGGACA c.360
L T I S E Q Q A E L I L Q S | I D V D G T p.120
. . . . . . g.44144
ATGACAGTGGACTGGAATGAATGGAGAGACTACTTCTTATTTAATCCTGTTACAGACATT c.420
M T V D W N E W R D Y F L F N P V T D I p.140
. . . | 05 . . . g.47765
GAGGAAATTATCCGTTTCTGGAAACATTCTACA | GGAATTGACATAGGGGATAGCTTAACT c.480
E E I I R F W K H S T | G I D I G D S L T p.160
. . . . . . g.47825
ATTCCAGATGAATTCACGGAAGACGAAAAAAAATCCGGACAATGGTGGAGGCAGCTTTTG c.540
I P D E F T E D E K K S G Q W W R Q L L p.180
. . . . . . g.47885
GCAGGAGGCATTGCTGGTGCTGTCTCTCGAACAAGCACTGCCCCTTTGGACCGTCTGAAA c.600
A G G I A G A V S R T S T A P L D R L K p.200
. | 06 . . . . . g.50271
ATCATGATGCAG | GTTCACGGTTCAAAATCAGACAAAATGAACATATTTGGTGGCTTTCGA c.660
I M M Q | V H G S K S D K M N I F G G F R p.220
. . . . . . g.50331
CAGATGGTAAAAGAAGGAGGTATCCGCTCGCTTTGGAGGGGAAATGGTACAAACGTCATC c.720
Q M V K E G G I R S L W R G N G T N V I p.240
. . . . | 07 . . g.56987
AAAATTGCTCCTGAGACAGCTGTTAAATTCTGGGCATATGAACAG | TACAAGAAGTTACTT c.780
K I A P E T A V K F W A Y E Q | Y K K L L p.260
. . . . . . g.57047
ACTGAAGAAGGACAAAAAATAGGAACATTTGAGAGATTTATTTCTGGTTCCATGGCTGGA c.840
T E E G Q K I G T F E R F I S G S M A G p.280
. . . | 08 . . . g.61675
GCAACTGCACAGACTTTTATATATCCAATGGAG | GTTATGAAAACCAGGCTGGCTGTAGGC c.900
A T A Q T F I Y P M E | V M K T R L A V G p.300
. . . . . . g.61735
AAAACTGGGCAGTACTCTGGAATATATGATTGTGCCAAGAAGATTTTGAAACATGAAGGC c.960
K T G Q Y S G I Y D C A K K I L K H E G p.320
. . . . . . g.61795
TTGGGAGCTTTTTACAAAGGCTATGTTCCCAATTTATTAGGTATCATACCTTATGCAGGC c.1020
L G A F Y K G Y V P N L L G I I P Y A G p.340
. . | 09 . . . . g.66189
ATAGATCTTGCTGTGTATGAG | CTCTTGAAGTCCTATTGGCTGGATAATTTTGCAAAAGAT c.1080
I D L A V Y E | L L K S Y W L D N F A K D p.360
. . . . . . g.66249
TCTGTAAACCCTGGAGTCATGGTGTTGCTGGGATGCGGTGCCTTATCCAGCACCTGTGGT c.1140
S V N P G V M V L L G C G A L S S T C G p.380
. . . . . | 10 . g.68529
CAGCTGGCCAGCTACCCATTGGCTTTGGTGAGAACTCGCATGCAGGCTCAAG | CCATGTTA c.1200
Q L A S Y P L A L V R T R M Q A Q A | M L p.400
. . . . . . g.68589
GAAGGTTCCCCACAGCTGAATATGGTTGGCCTCTTTCGACGAATTATTTCCAAAGAAGGA c.1260
E G S P Q L N M V G L F R R I I S K E G p.420
. . . . . . g.68649
ATACCAGGACTTTACAGAGGCATCACCCCAAACTTCATGAAGGTGCTCCCTGCTGTAGGC c.1320
I P G L Y R G I T P N F M K V L P A V G p.440
. . . . . g.68706
ATCAGTTATGTGGTTTATGAAAATATGAAGCAAACTTTAGGAGTAACCCAGAAATGA c.1377
I S Y V V Y E N M K Q T L G V T Q K X p.458
. . . . . . g.68766
tgttgcattttttgctttagcctgataattgaaactttcaacaatctctggagtgacttt c.*60
. . . . . . g.68826
ttctcctcgaattgaaacaagtctatggcaaaagaagctgcatttttttcacaaaaggga c.*120
. . . . . . g.68886
agatggtaacaatggtcacttcaaacttttgggctaaattatatgtacacagaaatgttc c.*180
. . . . . . g.68946
aaaatcatagttttaatgtgttttgaaaaggccacacaattatactttatcttttcttaa c.*240
. . . . . . g.69006
taatcctgcaaatctctgccctgaatccgaaatctgaaaatgtactggcttgaacaaaat c.*300
. . . . . . g.69066
ttgttttgtgtgttagagttataaatcattaatctttatttcgggtggtttacgtttatg c.*360
. . . . . . g.69126
ccagttcctttatatttaaatttcttgttttatatattttgaatgtctttatagatttct c.*420
. . . . . . g.69186
ttaaatttccttatagaaccattaatagaaaatcattacatttaaaatataccttacagc c.*480
. . . . . . g.69246
aaaagcatccaaataagtatagggtttatgtccttatttttctttcagctgaatacgaat c.*540
. . . . . . g.69306
gaacacagtggtggaatttctgaagggaagtgatgaaattatatttatttcagtgggcac c.*600
. . . . . . g.69366
ttttccattttaccactgtaccattatttggttcctggagttatacactaattttcagta c.*660
. . . . . . g.69426
tattactgttaaattaccaacacaaggcaatttatttgaaagattccgtttatcctgcca c.*720
. . . . . . g.69486
ttgctttgaaaagcagcaggaaacgaaatcctttgacttgtatcagcttctgcagagcat c.*780
. . . . . . g.69546
ctttgttttcctttgtcctttgtttcctaccttttgaatcagattccgttttagtcagga c.*840
. . . . . . g.69606
agacttcttgggaccattcttagtaacctgaaatttcttttttaattgcatgaagtggat c.*900
. . . . . . g.69666
tgatcatgagcaaatgatgtgcttatttctccctcactgttgaatatctttgaacttgct c.*960
. . . . . . g.69726
gttttcaatatgggcagcacaaaggtgagagatacatattaatagtagtatgtattactc c.*1020
. . . . . . g.69786
ttatacattagatacctatatttaaatgaaaggcccaatttgtaaacatatacattcata c.*1080
. . . . . . g.69846
ttctctcttgccccaagttttaggaacatgttaggatataggagacttaatttataataa c.*1140
. . . . . . g.69906
tgagagcatttttttattttactaaagccatttttatagtcaactatcttttcttatttg c.*1200
. . . . . . g.69966
tgtgattagaacttagaaaaatatttactagttgaagttattatcagtttttaatttagt c.*1260
. . . . . . g.70026
tcttaaactcatttcacttctaataatttctgttataaatttccagcattttaatgaaaa c.*1320
. . . . . . g.70086
tctaatgatgtaataggcattttctttatttgaacctacctcttttattttctgaaccaa c.*1380
. . . . . . g.70146
agagaaagatggactggtgtttgtgaaacatttttaaaaatgtagtttcatttatattag c.*1440
. . . . . . g.70206
ttatgtttgataaatgtctcagtatttttataatatgataagcctgggattctactttta c.*1500
. . . . . . g.70266
gggttatttgtacttttgagtaatatataaagtgacaatattaaggtacatgatcagctc c.*1560
. . . . . . g.70326
tttctatttttactcgtaaaaattatggaaatgaataattttgctaacaactttgaaatt c.*1620
. . . . . . g.70386
tcaaacttctggaaaatatgaaaatattcattgttcattatgaatttaaattgtaaggta c.*1680
. . . . . . g.70446
tgaatgtgatttgtctgtacatcttgtatcttttccaaaaaatgattctgtatcttttgg c.*1740
. . . . . . g.70506
aaaaaagccgagagttgaagatagtatatttctggtagtactgaatatttacttacagtt c.*1800
. . . . . . g.70566
tctatcaaaaatatatatttgtttctaaaattacttgttttccagtttttatttttttta c.*1860
. . . . . . g.70626
gagaaaattcttaagtctcagtttcctaattgaaaaaaaaaaattataaataaagcaaaa c.*1920
. g.70637
attgtatccta c.*1931
(downstream sequence)
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