(used for variant description)
(last modified November 11, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_138775.2 in the ALKBH8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering ALKBH8 transcript NM_138775.2.
(upstream sequence)
. . g.5021
agttttctccaacatggccgc c.-121
. . . . . . g.5081
gcccaggggagatggcgtgcaagtatccgctgcggtgttctggtgctagagtggagaggc c.-61
. . . . . . | 02 g.9842
tggcaaagaagaaggcacacgcatggtgagaatccggcctgagccgaagcggag | tttgct c.-1
. . . . . . g.9902
ATGGACAGCAACCATCAAAGTAATTACAAACTCAGTAAAACTGAGAAGAAGTTCTTAAGG c.60
M D S N H Q S N Y K L S K T E K K F L R p.20
. . . . . . g.9962
AAACAGATTAAAGCCAAGCATACTTTGCTGAGACATGAAGGCATTGAGACAGTATCCTAT c.120
K Q I K A K H T L L R H E G I E T V S Y p.40
| 03 . . . . . g.13783
GCCACTCAG | AGCCTGGTTGTTGCCAATGGTGGTTTGGGTAATGGTGTGAGTCGGAACCAG c.180
A T Q | S L V V A N G G L G N G V S R N Q p.60
. . . . . . g.13843
CTGCTCCCGGTTTTAGAGAAATGTGGACTGGTGGATGCTCTCTTAATGCCACCTAACAAG c.240
L L P V L E K C G L V D A L L M P P N K p.80
. . . . . . g.13903
CCGTACTCATTTGCAAGATACAGAACTACAGAAGAATCTAAGAGAGCCTATGTTACCCTC c.300
P Y S F A R Y R T T E E S K R A Y V T L p.100
. . . . . . g.13963
AATGGAAAAGAAGTAGTGGATGATTTAGGACAAAAGATCACTCTGTATTTGAATTTTGTG c.360
N G K E V V D D L G Q K I T L Y L N F V p.120
| 04. . . . . . g.16810
GAAAAAG | TGCAGTGGAAGGAGTTGAGGCCTCAAGCCTTACCACCAGGACTCATGGTAGTA c.420
E K V | Q W K E L R P Q A L P P G L M V V p.140
. . . . . . g.16870
GAAGAAATAATTTCTTCTGAGGAGGAGAAAATGCTTTTGGAAAGTGTTGATTGGACAGAA c.480
E E I I S S E E E K M L L E S V D W T E p.160
. | 05 . . . . g.17573
GATACAGACAATCAAAACT | CTCAAAAATCCTTAAAACACAGAAGAGTAAAGCATTTTGGT c.540
D T D N Q N S | Q K S L K H R R V K H F G p.180
. . . . . | 06 . g.18828
TATGAGTTCCACTATGAGAACAACAATGTAGATAAAGATAAGCCATTATCTGGGG | GTCTT c.600
Y E F H Y E N N N V D K D K P L S G G | L p.200
. . . . . . g.18888
CCTGACATTTGTGAAAGCTTTTTGGAGAAATGGTTGAGGAAAGGTTACATTAAACATAAA c.660
P D I C E S F L E K W L R K G Y I K H K p.220
. . . . | 07 . . g.20932
CCTGATCAAATGACCATAAATCAGTATGAACCTGGGCAAG | GAATTCCCGCTCATATTGAT c.720
P D Q M T I N Q Y E P G Q G | I P A H I D p.240
. . . . . | 08 . g.38338
ACACATTCCGCTTTTGAGGATGAGATCGTTTCTCTCAGTTTGGGGTCAGAG | ATTGTCATG c.780
T H S A F E D E I V S L S L G S E | I V M p.260
. . . . . . g.38398
GATTTTAAGCACCCAGATGGCATTGCAGTGCCAGTTATGTTGCCTCGTCGGAGTTTGCTG c.840
D F K H P D G I A V P V M L P R R S L L p.280
. . . | 09 . . g.45165
GTGATGACAGGAGAATCTAGATACCTTTGGACCCATGG | AATCACGTGCAGAAAATTTGAT c.900
V M T G E S R Y L W T H G | I T C R K F D p.300
. . . . . . g.45225
ACTGTTCAAGCATCTGAGAGTCTTAAAAGTGGAATTATCACCAGTGATGTTGGAGACTTA c.960
T V Q A S E S L K S G I I T S D V G D L p.320
. . . . . . g.45285
ACTTTAAGCAAGAGGGGACTACGAACATCATTTACATTTAGGAAAGTGAGGCAAACACCT c.1020
T L S K R G L R T S F T F R K V R Q T P p.340
. | 10 . . . . . g.48230
TGTAACTGTA | GTTACCCGTTGGTCTGTGATAGCCAGAGGAAAGAGACTCCCCCCTCATTT c.1080
C N C S | Y P L V C D S Q R K E T P P S F p.360
. . . . . . g.48290
CCAGAGAGTGATAAAGAAGCCTCACGGCTGGAGCAAGAGTACGTCCATCAGGTTTATGAA c.1140
P E S D K E A S R L E Q E Y V H Q V Y E p.380
. . . . . . g.48350
GAGATTGCTGGGCACTTCAGCAGCACAAGACATACCCCTTGGCCGCACATTGTGGAGTTT c.1200
E I A G H F S S T R H T P W P H I V E F p.400
. . . . . . g.48410
TTGAAGGCTTTGCCAAGTGGTTCAATAGTGGCTGATATTGGATGTGGTAATGGAAAGTAT c.1260
L K A L P S G S I V A D I G C G N G K Y p.420
. . | 11. . . . g.59732
CTTGGCATCAATAAGGAGTTATATATG | ATTGGTTGTGATCGTAGCCAAAACCTTGTGGAC c.1320
L G I N K E L Y M | I G C D R S Q N L V D p.440
. . . . . . g.59792
ATTTGTAGAGAGAGGCAATTTCAGGCTTTTGTCTGTGATGCATTGGCAGTACCAGTCCGC c.1380
I C R E R Q F Q A F V C D A L A V P V R p.460
. . . . . | 12. g.65523
AGTGGGTCTTGTGATGCCTGCATCTCCATTGCTGTTATTCATCATTTTGCAACAGCA | GAG c.1440
S G S C D A C I S I A V I H H F A T A | E p.480
. . . . . . g.65583
CGTAGAGTGGCAGCTCTCCAAGAAATTGTTCGACTCCTGAGACCAGGTGGGAAGGCACTC c.1500
R R V A A L Q E I V R L L R P G G K A L p.500
. . . . . . g.65643
ATTTATGTCTGGGCAATGGAACAAGAATATAATAAGCAGAAGTCCAAGTATCTTAGAGGA c.1560
I Y V W A M E Q E Y N K Q K S K Y L R G p.520
. . . . . . g.65703
AACAGAAATAGCCAAGGAAAGAAAGAGGAGATGAACAGTGATACCTCAGTGCAGAGGTCA c.1620
N R N S Q G K K E E M N S D T S V Q R S p.540
. . . . . . g.65763
CTTGTGGAGCAAATGCGTGACATGGGCAGTCGAGACTCGGCATCTTCTGTCCCCCGCATT c.1680
L V E Q M R D M G S R D S A S S V P R I p.560
. . . . . . g.65823
AATGACTCTCAGGAAGGAGGATGTAATTCAAGGCAAGTTTCTAATTCCAAGCTGCCTGTT c.1740
N D S Q E G G C N S R Q V S N S K L P V p.580
. . . . . . g.65883
CATGTTAACAGGACTTCTTTTTATTCTCAAGATGTACTGGTTCCCTGGCACCTTAAGGGA c.1800
H V N R T S F Y S Q D V L V P W H L K G p.600
. . . . . . g.65943
AATCCTGATAAAGGCAAACCTGTTGAGCCATTTGGTCCCATAGGATCCCAGGACCCAAGT c.1860
N P D K G K P V E P F G P I G S Q D P S p.620
. . . . . . g.66003
CCTGTGTTTCATCGTTACTACCATGTGTTCCGTGAGGGAGAACTGGAAGGTGCCTGCAGG c.1920
P V F H R Y Y H V F R E G E L E G A C R p.640
. . . . . . g.66063
ACTGTGAGTGATGTCAGAATTCTGCAAAGCTACTACGATCAAGGAAACTGGTGTGTGATT c.1980
T V S D V R I L Q S Y Y D Q G N W C V I p.660
. g.66078
CTTCAAAAGGCCTGA c.1995
L Q K A X p.664
. . . . . . g.66138
ttatttacctgaacacatcatatataaagaagaaatgctcacttaaaaaaaaagagagaa c.*60
. . . . . . g.66198
taaattaattacccttttaattaaagagaaaacttgtgggaaagtaccaaaggaaagctg c.*120
. . . . . . g.66258
agaaaaatttggaagtagggattcattaggagacattcaaatgtctcctgttggctgaca c.*180
. . . . . . g.66318
tcacagatgtggtgttggctcctcctacttccctaggagaggtggtttctaaaagtgatt c.*240
. . . . . . g.66378
gaagcagtttgtgcagtgtttgtaattcttgggtaagagcccaggattttgaagataata c.*300
. . . . . . g.66438
gttttttagtaaagtgctactaaatgtagtaaatcatgtaggattttagggatgtaatta c.*360
. . . . . . g.66498
tatgttaatacagaaaatagtcctggtcaatagaaaattgtctgaagttttacctatgat c.*420
. . . . . . g.66558
ttttagctctgtaaaatcatagacaataaccattctatttccatgcctgactagcccagg c.*480
. . . . . . g.66618
gctggacgtatagcgggtgtccaataacgtttagtcaatcagataatacccagaacttag c.*540
. . . . . . g.66678
taggagtttcattcaaaaactattttttgaacccaaccatgtaccagttactattttaag c.*600
. . . . . . g.66738
tactgataatgaagcagtgaataagaaagagcaaagctcttgcccttatggtgcttacat c.*660
. . . . . . g.66798
tctagacggggagacagacagcaggcaaatcaataaatagatactatgtgccagatagtg c.*720
. . . . . . g.66858
ataaatgccatgaaaaacataaaatgagagacgattcaccttggagcaaaagattacttt c.*780
. . . . . . g.66918
taagtgactgaaataactactaatcctgactaatttattatcaagagttaattggtattc c.*840
. . . . . . g.66978
caaattcattgagcagggtgctaaaaacaacccaaatgtgctcctttaactcctttgttt c.*900
. . . . . . g.67038
aaatgacaaaagttagaatgtggtcactcagacctaactgtgcccttagagccaaagctg c.*960
. . . . . . g.67098
tggtgtcattattggttatttctagttgattcatagtttgtcccaatccaggttcaatcg c.*1020
. . . . . . g.67158
ggttatttttaagatctgtacaatattgcataatagtaacccagttaacttaccacttag c.*1080
. . . . . . g.67218
gttagatttcctggaggaacaaaggtagaaattcaaccataggtcaaattatcacataga c.*1140
. . . . . . g.67278
aggaaaaggctttttttcaaagaaaaaattttttgaacactttactcccagtatgcatta c.*1200
. . . . . . g.67338
cttttgtagtagtaatgcttaagactgttttaaagaaaaattgctttctgtttaattaat c.*1260
. . . . . . g.67398
gtttactgttattaatgctagtgatacttaatcttgaagcatcaagttttcagaaaccta c.*1320
. . . . . . g.67458
tagtgatcaataatgggtctcagatgagaggatgattatttttttcatggaatttcagtc c.*1380
. . . . . . g.67518
caacatcctggtgtactggtccctctgggatgaatttataaggctcatgatataggaaaa c.*1440
. . . . . . g.67578
ggaatatagggctaaaaatagttttatttctgatataaattctggtacttgacaccaaag c.*1500
. . . . . . g.67638
tttgaagtcaagtcatgccaataaattttaacatccaaatgaaatagatgattttctatg c.*1560
. . . . . . g.67698
aagatgaaaaataccaaaattgactcaagaagggagagaaaatggaagatgttgaaaaat c.*1620
. . . . . . g.67758
agcataggaattcagaactgggctctagaatcagatttcctgagagttgaattctagatc c.*1680
. . . . . . g.67818
tgccatttattagctgtgggattttgggcaaatttcttgactttctgtgcttcagttttc c.*1740
. . . . . . g.67878
ttagctgtaaaattggaagagttgttatgaaaattcactgaaagtatatttgtatacatc c.*1800
. . . . . . g.67938
ataggatagtgtaagaatatagtatggctttgagaaatgttcattattattactcccaga c.*1860
. . . . . . g.67998
ggagttttaggtattaagtgatgccaaatataatttgttaattgtataataaaaatctat c.*1920
. g.68009
attcttactga c.*1931
(downstream sequence)
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