(used for variant description)
(last modified October 8, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_003888.3 in the ALDH1A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012259.1, covering ALDH1A2 transcript NM_003888.3.
(upstream sequence)
. . . g.5033
ggtctccgcggccggggggcgggagcgccgggc c.-241
. . . . . . g.5093
ggacttgaccgtgggcgccaagcgtcccggccgcgcggcgcgggctttatgtaaatggag c.-181
. . . . . . g.5153
gctgcgccgggcgtcctaggtaggatggaccagccccccgcgcctcggccctcacgtcca c.-121
. . . . . . g.5213
ataagaagagccccagcttgacacctgcctatatacaggcgagcgcgcccccgggccgcg c.-61
. . . . . . g.5273
gaccgcgcgcacagcccgcactgccccacgccgcgggctagggacacccggcccgccacc c.-1
. . . . . . g.5333
ATGACTTCCAGCAAGATAGAGATGCCCGGCGAGGTGAAGGCCGACCCCGCCGCCCTCATG c.60
M T S S K I E M P G E V K A D P A A L M p.20
. . . . . | 02. g.56645
GCGTCGCTGCACCTCCTGCCGTCGCCCACGCCCAATCTCGAAATTAAGTACACCAAG | ATC c.120
A S L H L L P S P T P N L E I K Y T K | I p.40
. . . . . . g.56705
TTTATAAACAACGAGTGGCAGAACTCAGAGAGTGGGAGAGTGTTCCCTGTCTATAATCCA c.180
F I N N E W Q N S E S G R V F P V Y N P p.60
. . . . | 03 . . g.56943
GCCACAGGAGAACAGGTGTGTGAAGTTCAAGAAGCAGACAAG | GCAGATATAGACAAAGCA c.240
A T G E Q V C E V Q E A D K | A D I D K A p.80
. . . . . . g.57003
GTGCAGGCAGCCCGCCTGGCTTTCTCTCTTGGTTCAGTGTGGAGAAGGATGGATGCTTCA c.300
V Q A A R L A F S L G S V W R R M D A S p.100
. . . . . . g.57063
GAAAGGGGACGTCTGTTGGATAAGCTTGCAGACTTGGTGGAACGGGACAGGGCAGTTCTT c.360
E R G R L L D K L A D L V E R D R A V L p.120
| 04 . . . . . . g.60202
GCA | ACCATGGAATCCCTAAATGGTGGCAAACCATTCCTGCAAGCTTTTTATGTGGATTTG c.420
A | T M E S L N G G K P F L Q A F Y V D L p.140
. . . . . . g.60262
CAGGGCGTCATCAAAACCTTTCGATATTACGCAGGCTGGGCTGATAAAATTCATGGGATG c.480
Q G V I K T F R Y Y A G W A D K I H G M p.160
. | 05 . . . . . g.75831
ACCATTCCTGTAG | ATGGAGACTATTTTACCTTTACAAGACATGAACCCATTGGAGTGTGT c.540
T I P V D | G D Y F T F T R H E P I G V C p.180
. | 06 . . . . . g.77895
GGACAGATCATCCCA | TGGAACTTCCCCCTGCTGATGTTTGCCTGGAAAATAGCTCCAGCT c.600
G Q I I P | W N F P L L M F A W K I A P A p.200
. . . . . . g.77955
TTGTGCTGTGGCAATACAGTAGTTATTAAGCCAGCAGAGCAAACACCACTCAGTGCACTC c.660
L C C G N T V V I K P A E Q T P L S A L p.220
. . | 07 . . . . g.78141
TACATGGGAGCCCTCATCAAGGAG | GCTGGCTTTCCTCCCGGGGTCATCAATATTTTGCCA c.720
Y M G A L I K E | A G F P P G V I N I L P p.240
. . . . . . g.78201
GGATATGGGCCAACGGCTGGGGCAGCAATAGCTTCTCACATTGGCATAGACAAGATTGCA c.780
G Y G P T A G A A I A S H I G I D K I A p.260
. | 08 . . . . g.105138
TTCACAGGGTCTACTGAG | GTTGGAAAGCTTATCCAAGAAGCAGCTGGAAGAAGTAATTTG c.840
F T G S T E | V G K L I Q E A A G R S N L p.280
. . . . . . g.105198
AAGAGAGTAACTCTGGAACTTGGAGGCAAAAGTCCTAATATTATTTTTGCTGATGCTGAC c.900
K R V T L E L G G K S P N I I F A D A D p.300
| 09 . . . . . . g.106913
T | TGGACTATGCTGTGGAGCAGGCCCACCAGGGTGTGTTCTTCAATCAAGGTCAGTGCTGC c.960
L | D Y A V E Q A H Q G V F F N Q G Q C C p.320
. . . . . . g.106973
ACTGCAGGCTCTCGCATCTTCGTGGAGGAGTCCATCTATGAGGAGTTTGTGAGAAGAAGC c.1020
T A G S R I F V E E S I Y E E F V R R S p.340
. . . . . . g.107033
GTGGAGCGGGCCAAGAGGCGCGTAGTGGGGAGTCCCTTTGACCCCACCACTGAGCAGGGT c.1080
V E R A K R R V V G S P F D P T T E Q G p.360
| 10 . . . . . . g.108801
CCCCAG | ATTGATAAGAAACAGTACAACAAGATCTTGGAACTCATCCAGAGTGGTGTGGCT c.1140
P Q | I D K K Q Y N K I L E L I Q S G V A p.380
. . . . . . g.108861
GAGGGCGCCAAGCTGGAATGTGGAGGCAAAGGACTGGGCCGAAAGGGGTTTTTCATTGAG c.1200
E G A K L E C G G K G L G R K G F F I E p.400
. . . . . | 11 . g.109638
CCCACAGTGTTTTCCAACGTCACTGATGATATGCGGATTGCCAAGGAGGAG | ATCTTTGGC c.1260
P T V F S N V T D D M R I A K E E | I F G p.420
. . . . . . g.109698
CCTGTTCAGGAAATTTTGAGATTTAAGACGATGGATGAAGTTATCGAAAGAGCCAATAAC c.1320
P V Q E I L R F K T M D E V I E R A N N p.440
. . . . . . g.109758
TCAGACTTTGGACTCGTAGCAGCTGTCTTTACTAATGACATCAACAAGGCCCTCACAGTG c.1380
S D F G L V A A V F T N D I N K A L T V p.460
. . | 12 . . . g.110110
TCTTCTGCAATGCAAGCTGGGACTGTTTG | GATCAATTGTTACAATGCCTTAAATGCCCAG c.1440
S S A M Q A G T V W | I N C Y N A L N A Q p.480
. . . . | 13 . . g.115670
AGCCCCTTTGGGGGATTCAAGATGTCTGGAAATGGGAGAGAAAT | GGGAGAATTTGGCTTG c.1500
S P F G G F K M S G N G R E M | G E F G L p.500
. . . . . g.115727
CGGGAGTACTCAGAAGTTAAGACGGTGACAGTAAAGATCCCCCAGAAGAACTCCTAA c.1557
R E Y S E V K T V T V K I P Q K N S X p.518
. . . . . . g.115787
gaaggccaagaaggaggatgaagcccagcctgcacgtctgtccctctctgctttctctgt c.*60
. . . . . . g.115847
agggcccagctctcaggaatacaaagttgagccacggtccttacttaaagattgaaaaga c.*120
. . . . . . g.115907
taacatgtaggccaggcaggtcactgcacaactaaagcaaaccagctgggtacagtttct c.*180
. . . . . . g.115967
tggcactctgtaaggggccaccttaatcataccaaatattggggaaagtgggataaaggg c.*240
. . . . . . g.116027
aggaggaggagctagcagacacatccagtatctccttctggagcacaggatgaaataagg c.*300
. . . . . . g.116087
gagctgtattatttcatgtctttgtcacaaagaactttcctctcaaggaaaggtgacctt c.*360
. . . . . . g.116147
tctcctgtcttcattttcctccttccaggccctcctcgctcacccacccctccctctctt c.*420
. . . . . . g.116207
ccaaggagatgtcagctgagctcattctggggcagatgtttgggccgggaacaatttttc c.*480
. . . . . . g.116267
aaggttgtaaagccaaattatcatttcatgttatccatttcttcaaagcaaaacatgaaa c.*540
. . . . . . g.116327
tggttttagctagagtcagaccagaatgaaaatgccaggagctggtacactacagatgta c.*600
. . . . . . g.116387
gtaagaacctgggatattcctgacccaatctggttttcttttacccataaataacatgaa c.*660
. . . . . . g.116447
tgaaaaaagattgggacaatagagactggaagtcatcatgtgcagttcaccgcttctgag c.*720
. . . . . . g.116507
cttgctgcagttttggggtgtgtgtgtattagattccttctcagttattctggaataagg c.*780
. . . . . . g.116567
caaggagtgggttgtttttcatagctagataagatcttttccaaagtttttcttagaacc c.*840
. . . . . . g.116627
aaccaaaaaacaatccgagtaggcccaagaatttgataatgctggatgccttgcagacat c.*900
. . . . . . g.116687
cattcagtttctaatattgggcaacaattattattaaatgaattatttctgtagttggaa c.*960
. . . . . . g.116747
tctgtaccttctgaacctctacaccaataactgctgcaggtgtgattttggtctgtcaca c.*1020
. . . . . . g.116807
ctgtacatctatcataatgtgccctgtatctattggcagtgaccttggaaaatctggcca c.*1080
. . . . . . g.116867
agcctaggggtttccttttccatttgccaagttccattgtgccaggactgccgtgctcca c.*1140
. . . . . . g.116927
ctgagctcctctgtcacaccccattcttgcccctcactgggcaggccatggcctacagct c.*1200
. . . . . . g.116987
tgcagggagtaaagcaggcccgcctccctttcttcccatccacatactcctcttctgctt c.*1260
. . . . . . g.117047
tccagtgactccaccagtttgatgtgggaagtgttagcttcctttccttcttccatccct c.*1320
. . . . . . g.117107
tcttccatctttccagctgtcaaatccaatccagtctctaacctaaatgcagatcattta c.*1380
. . . . . . g.117167
tttaaaagtaccaaacataacccagagtatgtggaatatgggcaacatatatatagcctt c.*1440
. . . . . . g.117227
ctgtatttaacgatcttctgcttcttaaccgtaccagttttctatttataactcttatct c.*1500
. . . . . . g.117287
atccatgatgttttaaagtctccacttgctgttatttacaaacgacagtgcattcagcag c.*1560
. . . . . . g.117347
cccagtgccgtgagccctgacagatgccgtatttctgagtgcttccatgtgaatgctgcc c.*1620
. . . . . . g.117407
ctcctgtagcatgtgtccaagtggacatagccactaaccaactagttacctttggactgc c.*1680
. . . . . . g.117467
aacaaaaaatgtgaaaatgaagatttatttcttttaatttacttaaaaagaaacctctgt c.*1740
. . . g.117500
gctagcaataaagcatttatattgtgtactcct c.*1773
(downstream sequence)
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