(used for variant description)
(last modified February 16, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000693.2 in the ALDH1A3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering ALDH1A3 transcript NM_000693.2.
(upstream sequence)
. . . . g.5044
aaagcggcggggagctgccaccccgggagcgggctgcgcagtgt c.-61
. . . . . . g.5104
ccgggccgagccggtgcgccgcagactagggcgcctcgggccagggagcgcggaggagcc c.-1
. . . . . . g.5164
ATGGCCACCGCTAACGGGGCCGTGGAAAACGGGCAGCCGGACAGGAAGCCGCCGGCCCTG c.60
M A T A N G A V E N G Q P D R K P P A L p.20
. . . | 02 . . g.10484
CCGCGCCCCATCCGCAACCTGGAGGTCAAGTTCACCAAG | ATATTTATCAACAATGAATGG c.120
P R P I R N L E V K F T K | I F I N N E W p.40
. . . . . . g.10544
CACGAATCCAAGAGTGGGAAAAAGTTTGCTACATGTAACCCTTCAACTCGGGAGCAAATA c.180
H E S K S G K K F A T C N P S T R E Q I p.60
. . | 03 . . . . g.12804
TGTGAAGTGGAAGAAGGAGATAAG | CCCGACGTGGACAAGGCTGTGGAGGCTGCACAGGTT c.240
C E V E E G D K | P D V D K A V E A A Q V p.80
. . . . . . g.12864
GCCTTCCAGAGGGGCTCGCCATGGCGCCGGCTGGATGCCCTGAGTCGTGGGCGGCTGCTG c.300
A F Q R G S P W R R L D A L S R G R L L p.100
. . . . | 04 . . g.17721
CACCAGCTGGCTGACCTGGTGGAGAGGGACCGCGCCACCTTGGCC | GCCCTGGAGACGATG c.360
H Q L A D L V E R D R A T L A | A L E T M p.120
. . . . . . g.17781
GATACAGGGAAGCCATTTCTTCATGCTTTTTTCATCGACCTGGAGGGCTGTATTAGAACC c.420
D T G K P F L H A F F I D L E G C I R T p.140
. . . . . | 05 . g.18146
CTCAGATACTTTGCAGGGTGGGCAGACAAAATCCAGGGCAAGACCATCCCCACAG | ATGAC c.480
L R Y F A G W A D K I Q G K T I P T D | D p.160
. . . . . | 06. g.19153
AACGTCGTGTGCTTCACCAGGCATGAGCCCATTGGTGTCTGTGGGGCCATCACTCCA | TGG c.540
N V V C F T R H E P I G V C G A I T P | W p.180
. . . . . . g.19213
AACTTCCCCCTGCTGATGCTGGTGTGGAAGCTGGCACCCGCCCTCTGCTGTGGGAACACC c.600
N F P L L M L V W K L A P A L C C G N T p.200
. . . . . . g.19273
ATGGTCCTGAAGCCTGCGGAGCAGACACCTCTCACCGCCCTTTATCTCGGCTCTCTGATC c.660
M V L K P A E Q T P L T A L Y L G S L I p.220
| 07 . . . . . . g.21183
AAAGAG | GCCGGGTTCCCTCCAGGAGTGGTGAACATTGTGCCAGGATTCGGGCCCACAGTG c.720
K E | A G F P P G V V N I V P G F G P T V p.240
. . . . . . g.21243
GGAGCAGCAATTTCTTCTCACCCTCAGATCAACAAGATCGCCTTCACCGGCTCCACAGAG c.780
G A A I S S H P Q I N K I A F T G S T E p.260
| 08 . . . . . . g.23339
| GTTGGAAAACTGGTTAAAGAAGCTGCGTCCCGGAGCAATCTGAAGCGGGTGACGCTGGAG c.840
| V G K L V K E A A S R S N L K R V T L E p.280
. . . . | 09 . . g.25788
CTGGGGGGGAAGAACCCCTGCATCGTGTGTGCGGACGCTGACT | TGGACTTGGCAGTGGAG c.900
L G G K N P C I V C A D A D L | D L A V E p.300
. . . . . . g.25848
TGTGCCCATCAGGGAGTGTTCTTCAACCAAGGCCAGTGTTGCACGGCAGCCTCCAGGGTG c.960
C A H Q G V F F N Q G Q C C T A A S R V p.320
. . . . . . g.25908
TTCGTGGAGGAGCAGGTCTACTCTGAGTTTGTCAGGCGGAGCGTGGAGTATGCCAAGAAA c.1020
F V E E Q V Y S E F V R R S V E Y A K K p.340
. . . . | 10 . g.30731
CGGCCCGTGGGAGACCCCTTCGATGTCAAAACAGAACAGGGGCCTCAG | ATTGATCAAAAG c.1080
R P V G D P F D V K T E Q G P Q | I D Q K p.360
. . . . . . g.30791
CAGTTCGACAAAATCTTAGAGCTGATCGAGAGTGGGAAGAAGGAAGGGGCCAAGCTGGAA c.1140
Q F D K I L E L I E S G K K E G A K L E p.380
. . . . . . g.30851
TGCGGGGGCTCAGCCATGGAAGACAAGGGGCTCTTCATCAAACCCACTGTCTTCTCAGAA c.1200
C G G S A M E D K G L F I K P T V F S E p.400
. . . | 11 . . . g.32344
GTCACAGACAACATGCGGATTGCCAAAGAGGAG | ATTTTCGGGCCAGTGCAACCAATACTG c.1260
V T D N M R I A K E E | I F G P V Q P I L p.420
. . . . . . g.32404
AAGTTCAAAAGTATCGAAGAAGTGATAAAAAGAGCGAATAGCACCGACTATGGACTCACA c.1320
K F K S I E E V I K R A N S T D Y G L T p.440
. . . . . . g.32464
GCAGCCGTGTTCACAAAAAATCTCGACAAAGCCCTGAAGTTGGCTTCTGCCTTAGAGTCT c.1380
A A V F T K N L D K A L K L A S A L E S p.460
. | 12 . . . . . g.33653
GGAACGGTCTG | GATCAACTGCTACAACGCCCTCTATGCACAGGCTCCATTTGGTGGCTTT c.1440
G T V W | I N C Y N A L Y A Q A P F G G F p.480
. . | 13 . . . . g.39931
AAAATGTCAGGAAATGGCAGAGAACT | AGGTGAATACGCTTTGGCCGAATACACAGAAGTG c.1500
K M S G N G R E L | G E Y A L A E Y T E V p.500
. . . g.39970
AAAACTGTCACCATCAAACTTGGCGACAAGAACCCCTGA c.1539
K T V T I K L G D K N P X p.512
. . . . . . g.40030
aggaaaggcggggctccttcctcaaacatcggacggcggaatgtggcagatgaaatgtgc c.*60
. . . . . . g.40090
tggaggaaaaaaatgacatttctgaccttcccgggacacattcttctggaggctttacat c.*120
. . . . . . g.40150
ctactggagttgaatgattgctgttttcctctcactctcctgtttattcaccagactggg c.*180
. . . . . . g.40210
gatgcctataggttgtctgtgaaatcgcagtcctgcctggggagggagctgttggccatt c.*240
. . . . . . g.40270
tctgtgtttccctttaaaccagatcctggagacagtgagatactcagggcgttgttaaca c.*300
. . . . . . g.40330
gggagtggtatttgaagtgtccagcagttgcttgaaatgctttgccgaatctgactccag c.*360
. . . . . . g.40390
taagaatgtgggaaaaccccctgtgtgttctgcaagcagggctcttgcaccagcggtctc c.*420
. . . . . . g.40450
ctcagggtggacctgcttacagagcaagccacgcctctttccgaggtgaaggtgggacca c.*480
. . . . . . g.40510
ttccttgggaaaggattcacagtaaggttttttggtttttgttttttgttttcttgtttt c.*540
. . . . . . g.40570
taaaaaaaggatttcacagtgagaaagttttggttagtgcataccgtggaagggcgccag c.*600
. . . . . . g.40630
ggtctttgtggattgcatgttgacattgaccgtgagattcggcttcaaaccaatactgcc c.*660
. . . . . . g.40690
tttggaatatgacagaatcaatagcccagagagcttagtcaaagacgatatcacggtcta c.*720
. . . . . . g.40750
ccttaaccaaggcactttcttaagcagaaaatattgttgaggttacctttgctgctaaag c.*780
. . . . . . g.40810
atccaatcttctaacgccacaacagcatagcaaatcctaggataattcacctcctcattt c.*840
. . . . . . g.40870
gacaaatcagagctgtaattcgctttaacaaattacgcatttctatcacgttcactaaca c.*900
. . . . . . g.40930
gcttatgataagtctgtgtagtcttccttttctccagttctgttacccaatttagattag c.*960
. . . . . . g.40990
taaagcgtacacaactggaaagactgctgtaataacacagccttgttatttttaagtcct c.*1020
. . . . . . g.41050
attttgatattaatttctgattagttagtaaataacacctggattctatggaggacctcg c.*1080
. . . . . . g.41110
gtcttcatccaagtggcctgagtatttcactggcaggttgtgaatttttcttttcctctt c.*1140
. . . . . . g.41170
tggggatccaaatgatgatgtgcaatttcatgttttaacttgggaaactgaaagtgttcc c.*1200
. . . . . . g.41230
catatagcttcaaaaacaaaaacaaatgtgttatccgacggatacttttatggttactaa c.*1260
. . . . . . g.41290
ctagtactttcctaattgggaaagtagtgcttaagtttgcaaattaagttggggagggca c.*1320
. . . . . . g.41350
ataataaaatgagggcccgtaacagaaccagtgtgtgtataacgaaaaccatgtataaaa c.*1380
. . . . . . g.41410
tgggcctatcacccttgtcagagatataaattaccacatttgccttcccttcatcagcta c.*1440
. . . . . . g.41470
acacttatcacttatactaccaataacttgttaaatcaggatttggcttcatacactgaa c.*1500
. . . . . . g.41530
ttttcagtattttatctcaagtagatatagacactaaccttgatagtgatacgttagagg c.*1560
. . . . . . g.41590
gttcctattcttccattgtacgataatgtctttaatatgaaatgctacattatttataat c.*1620
. . . . . . g.41650
tggtagagttattgtatctttttatagttgtaagtacacagaggtggtatatttaaactt c.*1680
. . . . . . g.41710
ctgtaatatactgtatttagaaatggaaatatatatagtgttaggtttcacttcttttaa c.*1740
. . . . . . g.41770
ggtttacccctgtggtgtggtttaaaaatctataggcctgggaattccgatcctagctgc c.*1800
. . . . . g.41823
agatcgcatcccacaatgcgagaatgataaaataaaattggatatttgagaaa c.*1853
(downstream sequence)
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