(used for variant description)
(last modified September 24, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_014717.1 in the ZNF536 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering ZNF536 transcript NM_014717.1.
(upstream sequence)
. g.5018
gtctggagaagagagttt c.-121
. . . . . . g.5078
ccacgttgtcatcataggatctggactcaagtgaccaaaaccttgcttggatttttacct c.-61
. . . . . . | 02 g.76142
gatgaagtttgtcttgaaaagtgaaaatggttccatttccattttccctgttctcaag | gg c.-1
. . . . . . g.76202
ATGGAAGAAGCGAGCCTGTGCCTTGGAGTGTCTTCGGCGGAGCCGGAAGCTGAGCCCCAC c.60
M E E A S L C L G V S S A E P E A E P H p.20
. . . . . . g.76262
CTGAGTGGCCCCGTCCTCAACGGCCAGTATGCCATGAGTCAGAAGCTGCACCAGATCACC c.120
L S G P V L N G Q Y A M S Q K L H Q I T p.40
. . . . . . g.76322
TCCCAGCTCAGCCATGCCTTCCCCGAGCTCCATCCCCGGCCCAACCCCGAGGAGAAGCCC c.180
S Q L S H A F P E L H P R P N P E E K P p.60
. . . . . . g.76382
CCCGCATCCCTGGAGGAGAAGGCCCACGTGCCCATGAGCGGCCAGCCCATGGGCAGTCAG c.240
P A S L E E K A H V P M S G Q P M G S Q p.80
. . . . . . g.76442
ATGGCGCTCCTGGCCAACCAGCTGGGCCGGGAGGTGGACACCAGCCTCAACGGGAGGGTG c.300
M A L L A N Q L G R E V D T S L N G R V p.100
. . . . . . g.76502
GACTTGCAGCAGTTCCTCAACGGGCAGAACCTGGGCATCATGTCCCAGATGAGCGACATC c.360
D L Q Q F L N G Q N L G I M S Q M S D I p.120
. . . . . . g.76562
GAGGACGACGCCCGCAAGAACCGCAAGTACCCGTGCCCACTCTGCGGCAAGCGCTTCCGC c.420
E D D A R K N R K Y P C P L C G K R F R p.140
. . . . . . g.76622
TTCAACAGCATCCTCTCCCTGCACATGCGCACGCACACGGGCGAGAAGCCCTTCAAGTGC c.480
F N S I L S L H M R T H T G E K P F K C p.160
. . . . . . g.76682
CCGTACTGCGACCACAGGGCGGCGCAGAAGGGGAACCTCAAGATTCACCTGCGGACCCAC c.540
P Y C D H R A A Q K G N L K I H L R T H p.180
. . . . . . g.76742
AAGCTGGGCAACCTGGGCAAGGGGCGTGGGCGTGTGCGCGAGGAGAACCGCCTGCTGCAC c.600
K L G N L G K G R G R V R E E N R L L H p.200
. . . . . . g.76802
GAGCTGGAGGAGCGCGCCATCCTGCGGGACAAGCAGCTGAAAGGCAGCCTGCTGCAGCCC c.660
E L E E R A I L R D K Q L K G S L L Q P p.220
. . . . . . g.76862
CGGCCGGACCTGAAGCCCCCGCCGCACGCCCAGCAGGCCCCGCTGGCCGCCTGCACCCTG c.720
R P D L K P P P H A Q Q A P L A A C T L p.240
. . . . . . g.76922
GCCCTGCAGGCTAACCACAGCGTTCCCGACGTGGCCCACCCGGTGCCCTCGCCCAAGCCT c.780
A L Q A N H S V P D V A H P V P S P K P p.260
. . . . . . g.76982
GCCAGCGTGCAGGAGGACGCGGTGGCCCCGGCGGCGGGCTTCCGCTGTACCTTCTGCAAG c.840
A S V Q E D A V A P A A G F R C T F C K p.280
. . . . . . g.77042
GGCAAGTTCAAGAAGCGCGAGGAGCTGGACCGCCACATCCGCATCTTGCACAAGCCCTAC c.900
G K F K K R E E L D R H I R I L H K P Y p.300
. . . . . . g.77102
AAGTGCACGTTGTGCGACTTCGCGGCTTCGCAGGAGGAGGAGCTCATCAGCCACGTGGAG c.960
K C T L C D F A A S Q E E E L I S H V E p.320
. . . . . . g.77162
AAGGCACACATCACGGCCGAGTCGGCCCAGGGCCAGGGCCCCAACGGCGGTGGCGAGCAG c.1020
K A H I T A E S A Q G Q G P N G G G E Q p.340
. . . . . . g.77222
TCGGCCAACGAGTTCCGCTGCGAGGTGTGCGGTCAGGTGTTCAGCCAGGCGTGGTTCCTC c.1080
S A N E F R C E V C G Q V F S Q A W F L p.360
. . . . . . g.77282
AAGGGTCACATGCGCAAGCACAAAGACTCCTTTGAGCACTGCTGCCAGATCTGCGGCCGG c.1140
K G H M R K H K D S F E H C C Q I C G R p.380
. . . . . . g.77342
CGCTTCAAGGAGCCCTGGTTCCTCAAGAACCACATGAAGGTCCACCTCAACAAGCTGTCG c.1200
R F K E P W F L K N H M K V H L N K L S p.400
. . . . . . g.77402
GTGAAGAACAAGTCCCCCAGCGACCCCGAGGTGCCTGTGCCCATGGGCGGCATGTCCCAG c.1260
V K N K S P S D P E V P V P M G G M S Q p.420
. . . . . . g.77462
GAGGCCCACGCCAACCTGTACTCCAGGTACCTCTCCTGCCTGCAGAGTGGCTTCATGACC c.1320
E A H A N L Y S R Y L S C L Q S G F M T p.440
. . . . . . g.77522
CCGGACAAAGCCGGCCTGAGCGAGCCCAGCCAGCTCTATGGCAAGGGCGAGCTGCCCATG c.1380
P D K A G L S E P S Q L Y G K G E L P M p.460
. . . . . . g.77582
AAGGAGAAGGAAGCGCTGGGGAAGCTGCTGTCTCCCATCTCCAGCATGGCCCACGGCGTC c.1440
K E K E A L G K L L S P I S S M A H G V p.480
. . . . . . g.77642
CCGGAGGGGGACAAGCACTCCCTCCTGGGATGCCTCAATCTCGTGCCGCCGCTGAAATCC c.1500
P E G D K H S L L G C L N L V P P L K S p.500
. . . . . . g.77702
AGCTGCATCGAGCGGCTGCAGGCGGCTGCCAAGGCTGCGGAGATGGACCCCGTGAACAGC c.1560
S C I E R L Q A A A K A A E M D P V N S p.520
. . . . . . g.77762
TACCAGGCTTGGCAGCTCATGGCCAGGGGCATGGCCATGGAACATGGCTTCTTGTCTAAA c.1620
Y Q A W Q L M A R G M A M E H G F L S K p.540
. . . . . . g.77822
GAGCATCCGCTGCAGCGCAACCACGAAGACACTTTGGCAAACGCCGGGGTTCTGTTTGAT c.1680
E H P L Q R N H E D T L A N A G V L F D p.560
. . . . . . g.77882
AAGGAGAAGCGGGAGTACGTGTTAGTGGGAGCAGATGGCTCCAAGCAGAAAATGCCTGCT c.1740
K E K R E Y V L V G A D G S K Q K M P A p.580
. . . . . . g.77942
GATTTGGTTCACAGCACTAAAGTGGGCAGCCAGAGAGACCTGCCAAGTAAGCTCGACCCT c.1800
D L V H S T K V G S Q R D L P S K L D P p.600
. . . . . . g.78002
TTAGAAAGCAGTCGGGATTTTTTGTCACACGGGCTGAACCAGACTCTCGAGTATAACCTG c.1860
L E S S R D F L S H G L N Q T L E Y N L p.620
. . . . . . g.78062
CAGGGTCCTGGGAACATGAAGGAGAAGCCCACCGAGTGCCCCGACTGCGGCCGGGTGTTC c.1920
Q G P G N M K E K P T E C P D C G R V F p.640
. . . . . . g.78122
CGCACTTACCACCAGGTGGTCGTGCACTCCCGTGTCCACAAGCGGGACCGCAAGGGCGAG c.1980
R T Y H Q V V V H S R V H K R D R K G E p.660
. . . . . . g.78182
GAGGATGGGCTGCACGTGGGCCTGGATGAGCGGCGTGGCTCGGGCAGTGACCAGGAGTCC c.2040
E D G L H V G L D E R R G S G S D Q E S p.680
. . . . . . g.78242
CAGTCGGTGAGCCGCTCCACCACGCCGGGCTCCTCTAACGTCACCGAGGAGAGCGGGGTC c.2100
Q S V S R S T T P G S S N V T E E S G V p.700
. . . . . . g.78302
GGAGGCGGCCTCTCCCAGACCGGGAGTGCCCAGGAGGACAGCCCGCACCCCTCCTCGCCA c.2160
G G G L S Q T G S A Q E D S P H P S S P p.720
. | 03 . . . . . g.167476
TCCTCCTCAG | ACATTGGCGAGGAGGCTGGGAGATCTGCCGGCGTCCAGCAACCAGCGCTG c.2220
S S S D | I G E E A G R S A G V Q Q P A L p.740
. . . . . . g.167536
CTTCGCGACAGAAGCCTGGGCTCGGCCATGAAGGACTGCCCGTACTGTGGGAAAACTTTC c.2280
L R D R S L G S A M K D C P Y C G K T F p.760
. . . . | 04 . . g.180539
CGGACATCCCATCACCTTAAGGTGCACCTGAGGATACACACAG | GTGAGAAACCCTACAAG c.2340
R T S H H L K V H L R I H T G | E K P Y K p.780
. . . . . . g.180599
TGTCCGCACTGTGACTATGCCGGCACGCAGTCAGCATCCTTAAAATACCACTTAGAGCGA c.2400
C P H C D Y A G T Q S A S L K Y H L E R p.800
. . . . . . g.180659
CACCATCGGGAGCGGCAGAACGGGGCTGGGCCGCTGTCTGGGCAACCCCCAAATCAAGAC c.2460
H H R E R Q N G A G P L S G Q P P N Q D p.820
. . . . . . g.180719
CACAAGGATGAGATGTCAAGCAAAGCTTCTCTGTTCATCAGGCCAGACATCCTGAGGGGG c.2520
H K D E M S S K A S L F I R P D I L R G p.840
. . . . . . g.180779
GCCTTCAAGGGTCTCCCTGGAATCGACTTCAGAGGAGGCCCTGCATCTCAGCAGTGGACA c.2580
A F K G L P G I D F R G G P A S Q Q W T p.860
. . . . . . g.180839
TCAGGGGTTCTCTCCTCTGGAGATCACTCGGGGCAGGCCACGGGCATGTCTTCGGAGGTC c.2640
S G V L S S G D H S G Q A T G M S S E V p.880
. . . . . . g.180899
CCCTCAGATGCTCTGAAAGGCACTGACCTTCCTTCCAAAAGCACCCACTTCTCTGAGATC c.2700
P S D A L K G T D L P S K S T H F S E I p.900
. . . . . . g.180959
GGAAGAGCTTATCAAAGCATTGTGAGCAACGGTGTGAATTTCCAAGGGTCCTTGCAAGCT c.2760
G R A Y Q S I V S N G V N F Q G S L Q A p.920
. . . . . . g.181019
TTCATGGACAGTTTTGTCCTCAGTTCCTTGAAGAAGGAGAAGGACATGAAGGACAAAGCC c.2820
F M D S F V L S S L K K E K D M K D K A p.940
. . . . . . g.181079
CTGGCTGACCCCCCTTCCATGAAAGTCCACGGAGTGGATGGTGGTGAGGAGAAACCCAGT c.2880
L A D P P S M K V H G V D G G E E K P S p.960
. . . . . . g.181139
GGCAAGTCCTCCCAGAGGAAGTCCGAGAAATCTCAGTATGAACCCCTGGACTTGTCTGTG c.2940
G K S S Q R K S E K S Q Y E P L D L S V p.980
. . . . . . g.181199
CGGCCAGATGCCGCCTCCCTCCCGGGCTCCTCGGTAACTGTGCAGGACAGCATTGCATGG c.3000
R P D A A S L P G S S V T V Q D S I A W p.1000
. . . . . . g.181259
CACGGCTGCTTGTTTTGTGCTTTCACAACGTCCTCCATGGAGCTCATGGCCCTTCATCTC c.3060
H G C L F C A F T T S S M E L M A L H L p.1020
. . . . . . g.181319
CAGGCCAACCACCTGGGCAAAGCGAAACGCAAAGATAACACCATCGGGGTCACAGTCAAC c.3120
Q A N H L G K A K R K D N T I G V T V N p.1040
. . . . . . g.181379
TGCAAAGACCAAGCCCGGGAGGCGAGTAAGATGGCCCTGCTGCCCTCGTTACAATCAAAC c.3180
C K D Q A R E A S K M A L L P S L Q S N p.1060
. . . . . . g.181439
AAAGACCTGGGCCTCTCCAATATGATCAGCTCTCTAGACTCTGCTTCTGAGAAGATGGCC c.3240
K D L G L S N M I S S L D S A S E K M A p.1080
. . . . . . g.181499
CAAGGTCAGCTCAAGGAGACTCTGGGAGAGCAGAAGAGCGGTGCATGGACCGGCCACGTG c.3300
Q G Q L K E T L G E Q K S G A W T G H V p.1100
. . . . . . g.181559
GACCCTGCATTTTGTAACTTCCCATCAGACTTCTACAAGCAGTTTGGTGTTTACCCAGGC c.3360
D P A F C N F P S D F Y K Q F G V Y P G p.1120
. . . . . . g.181619
ATGGTTGGCTCAGGGGCCTCCAGTTCCTGCCCCAACAAGGAGCCTGATGGAAAGGCCCAC c.3420
M V G S G A S S S C P N K E P D G K A H p.1140
. . . . . . g.181679
TCTGAAGAGGATGTCCCCATCCTGATCCCCGAAACCACGAGTAAGAACACTACTGATGAC c.3480
S E E D V P I L I P E T T S K N T T D D p.1160
. . . . . . g.181739
CTCTCTGACATTGCCTCCTCAGAGGACATGGACTCCTCCAAGGGGGAGAACAACGATGAA c.3540
L S D I A S S E D M D S S K G E N N D E p.1180
. . . . . . g.181799
GAGGATGTTGAAACCGAACCGGAAATGATGACCAAGCCACTGTCTGCCCTCAGCAAAGAC c.3600
E D V E T E P E M M T K P L S A L S K D p.1200
. . . . . . g.181859
AGCAGCAGCGATGGCGGGGACAGCCTGCAGCCCACAGGCACCTCCCAGCCCGTCCAGGGA c.3660
S S S D G G D S L Q P T G T S Q P V Q G p.1220
. . . . . . g.181919
CTGGTCTCACCTTTATCCCAAGCACCGGAGAAGCAGTGGCACAGCCAGGGTCTTCTCCAA c.3720
L V S P L S Q A P E K Q W H S Q G L L Q p.1240
. . . . . . g.181979
GCCCAGGACCCCTTGGCGGGCCTGCCAAAGCCGGAGCGGGGGCCCCAGAGCCTGGACAAG c.3780
A Q D P L A G L P K P E R G P Q S L D K p.1260
. . . . . . g.182039
CCGATGAACATGCTGTCGGTCCTCAGGGCCTACAGTTCTGATGGCTTAGCAGCCTTTAAC c.3840
P M N M L S V L R A Y S S D G L A A F N p.1280
. . . . . | 05 . g.189741
GGACTTGCAAGTAGCACAGCAAATTCTGGATGTATCAAGAGGCCAGACTTGTGTG | GTAAG c.3900
G L A S S T A N S G C I K R P D L C G | K p.1300
g.189744
TGA c.3903
X p.1300
. . . . . . g.189804
cactccctgtcctagtcggtctatctggacttgcccttgtctgttcgtggtcctcggtgg c.*60
. . . . . . g.189864
ttatctgcagcttgttaatcgtgtaaagtcaagagaagaatgtatacacatatgtgtgtt c.*120
. . . . . . g.189924
gaataattactattggcataggtatgtgtatacacacggtgcaccaatctacagtatata c.*180
. . . . . . g.189984
tagcagagaatcagaggctaaaaatattaccccatatgttccagtattagtcatggattg c.*240
. . . . . . g.190044
caaaggcttagtaacttgagcaggagagaaaactccctcaaagtcataaatcctgagtga c.*300
. . . . . . g.190104
caactgctgctggatgacagatcccttcacctgtggacaacctggctgggggtggggggc c.*360
. . . . . . g.190164
tgttccaccagctcacctgagcatgtagaggtgggtcctgcagtggtctcgtgggtatta c.*420
. . . . . . g.190224
ctgcttgtgtctgattgtcctgtattttgtaacactttagaagaatacagaaaagtgcag c.*480
. . . . . . g.190284
taattctctttctccatagtatttaagcagaaatattgctagtttaatattgtgtcaggt c.*540
. . . . . . g.190344
cgtcctattaaccaggagcagatgacagtaaaatttcagtgaatagcaccttgacatcta c.*600
. . . . . . g.190404
caacttaaaaatggtgattgaagcaaaatatgtaaacttgtacggggtgatcgtgtgctt c.*660
. . . . . . g.190464
tggaacagagtattgttgaagtaattagaagatatattaaggtgttcctggtaatgaagg c.*720
. . . . . . g.190524
catgtaagttataataattgtagctttctgaataagtgtcaaactatatctttaagtgtg c.*780
. . . . . . g.190584
ctgtatgctgagttacaagttaggtcatttatgaatggaatgtaaaataatactaaaaat c.*840
. . . . . g.190638
gcttcaataacttatcttggtattgctaataaaaaaaaaaagctgtgaaacatt c.*894
(downstream sequence)
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