(used for variant description)
(last modified October 31, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_032207.2 in the C19orf44 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering C19orf44 transcript NM_032207.2.
(upstream sequence)
. g.5013
gttgcccagggca c.-61
. . . . . . | 02 g.9399
accgctccttcaggcgtgaatgtggcggctgcctctgcgaatggacggcgtgggaagag | a c.-1
. . . . . . g.9459
ATGGCTTCTGCAAGGAAAGCCAGCCGTCCCATGCGTGATGTTTTTGGTGACTTCAGTGAT c.60
M A S A R K A S R P M R D V F G D F S D p.20
. . . . . . g.9519
GTTTCCTTGGAAGATTCAACAATGGAAGAAATCAGAAACTTCCAGATCAGTAGAAATCTT c.120
V S L E D S T M E E I R N F Q I S R N L p.40
. . . . . . g.9579
ACCAAAATAGCACCTGGTCATAGCAGATTTCTAAAAAGAAACCAAACTCTAGATGAGAAA c.180
T K I A P G H S R F L K R N Q T L D E K p.60
. . . . . . g.9639
CACTTACTCCTGAAAGAGAACCCTGTGCTCGGGAGTGGACCCAGGCTTGCCTCATGTAGA c.240
H L L L K E N P V L G S G P R L A S C R p.80
. . . . . . g.9699
CCGCCCACCACTGCCTCCAGGATCCGAGCCAATGCCGCACTCATGAAGCTGGCCCAGCTG c.300
P P T T A S R I R A N A A L M K L A Q L p.100
. . . . . . g.9759
GAAACCCGGATCATGAATCGGAAGCTGCAGAGGAATTTGTCTGACACGGAATCTGACTCA c.360
E T R I M N R K L Q R N L S D T E S D S p.120
. . . . . . g.9819
ATGACCGCCGATGCTGGTCTTCCAAAGAGAGCTGACAGAATCCTCTCTGGGGGTGCACTC c.420
M T A D A G L P K R A D R I L S G G A L p.140
. . . . . . g.9879
GAACTCGCGTCCCAGAACACAGACAAAACTTCCCAGAATCAAGCCCGTGAACTTCCTGTC c.480
E L A S Q N T D K T S Q N Q A R E L P V p.160
. . . . . . g.9939
ACCGAAAATAATGCACAGAACGCGAAGGTCAGTAGGTTTCTAAAGAAGAAACAAGCACCT c.540
T E N N A Q N A K V S R F L K K K Q A P p.180
. . . . . . g.9999
GTTGAAAACATATCCCCTGAAGCACCTGCTGGGAAAGAGAGGACTTTGCAAACCCCCAAA c.600
V E N I S P E A P A G K E R T L Q T P K p.200
. . . . . . g.10059
CAGAAAGAACCTGCTAGAACATTTGATTCTCCAGACAGTGACGAAGAAGAAATGAAAGTA c.660
Q K E P A R T F D S P D S D E E E M K V p.220
. . . . . . g.10119
TTGCTAGGAAGCTTGATGGACTCTTCTAGAGAAAAAAACACGAATCAAGGCTTCAGCAGC c.720
L L G S L M D S S R E K N T N Q G F S S p.240
. . . | 03 . . g.11692
GCTAACGTCAGCGAGGAAGAAGAAAGAAAACTATTTTCG | GTCCCATCTCAACTGAGAGCA c.780
A N V S E E E E R K L F S | V P S Q L R A p.260
. . . . . . g.11752
TTTACTGTACCCAGCGTGGAACTCTCCAGCGCAAAGCCTTCTCAGACATCACACCTGCCA c.840
F T V P S V E L S S A K P S Q T S H L P p.280
. . . . . . g.11812
ACCTCCCTGGCAGCAGACAGAACCCTTCACAGCACTCGCTCAAGAGCAGACTACCCACAG c.900
T S L A A D R T L H S T R S R A D Y P Q p.300
. . . . . . g.11872
AGTCACGTTTCCAGTGACACCGCCTCCCACACGCCGTCAGTTTCCATCACAGGCGCCTTT c.960
S H V S S D T A S H T P S V S I T G A F p.320
. . . . . . g.11932
TCAAACTCAGTGTCTTTAAAGATGGGGCATGTCAAGCTTGTGTCCTCCCCGGGAAGGAGT c.1020
S N S V S L K M G H V K L V S S P G R S p.340
. . . . . | 04 . g.15312
GAGGCTGAGACTGTGGACGAGCCAGTCTCAGAAGGTGCTGATGACAGCCTCGACG | AGTTT c.1080
E A E T V D E P V S E G A D D S L D E | F p.360
. . . . . . g.15372
AGAATAAATATTTTATCGCTTGACGGTCTGGCTCCAGCTGTCAGTGAGAACTCCGATTTG c.1140
R I N I L S L D G L A P A V S E N S D L p.380
| 05 . . . . . g.18156
GAACAGGAA | GAGGAAAGTGCTCAGAGACAAAAAACAGCTGGCAAAATCTTCAGAGCCGAG c.1200
E Q E | E E S A Q R Q K T A G K I F R A E p.400
. . . . . . g.18216
GCGTCCACTGGGCAGGATGCCCCGAGGCAGGCCCAGGCGAGGAGCTGGGCATCACAGGGA c.1260
A S T G Q D A P R Q A Q A R S W A S Q G p.420
. . . . . . g.18276
AAGGCCGCCTCTGCAGAGGGGGATGAGAGCGAGGTCTCGGAGCATCTCAGTGCCAGCTCG c.1320
K A A S A E G D E S E V S E H L S A S S p.440
. . . . . . g.18336
GCTTCTGCCATCCAGCAGGACAGCACTTCCAGCATGCAGCCACCATCTGAAGCCCCCATG c.1380
A S A I Q Q D S T S S M Q P P S E A P M p.460
. . . . . . g.18396
GTGAACACAGTCAGCTCAGCTTATTCGGAGGATTTTGAAAACTCTCCAAGTCTGACAGCA c.1440
V N T V S S A Y S E D F E N S P S L T A p.480
. . . . . . g.18456
TCTGAGCCAACCGCCCATTCCAAGGAGTCTCTTGACAGAACACTGGACGCTTTGTCTGAA c.1500
S E P T A H S K E S L D R T L D A L S E p.500
. . . . . . g.18516
TCCTCTTCAAGTGTGAAGACAGACCTTCCACAAACAGCCGAGTCTAGGAAAAAGTCGGGC c.1560
S S S S V K T D L P Q T A E S R K K S G p.520
. . . . . . g.18576
AGGCACGTGACAAGAGTGCTTGTGAAGGACACAGCTGTGCAGACGCCAGATCCTGCCTTC c.1620
R H V T R V L V K D T A V Q T P D P A F p.540
. | 06 . . . . g.21661
ACCTACGAGTGGACCAAGG | TGGCCAGCATGGCAGCCATGGGGCCTGCCCTGGGAGGCGCC c.1680
T Y E W T K V | A S M A A M G P A L G G A p.560
. . . . . | 07 . g.23108
TACGTGGACCCGACACCCATCGCCAATCATGTTATCAGTGCAGATGCAATAGAAG | CCCTG c.1740
Y V D P T P I A N H V I S A D A I E A | L p.580
. . . . . . g.23168
ACCGCTTACAGCCCGGCCGTGCTGGCACTCCATGATGTGCTGAAGCAGCAGCTGAGCCTG c.1800
T A Y S P A V L A L H D V L K Q Q L S L p.600
. . . . . . g.23228
ACGCAGCAGTTCATCCAGGCCAGCCGGCACCTGCACGCCTCCCTCCTGCGCTCCCTGGAC c.1860
T Q Q F I Q A S R H L H A S L L R S L D p.620
. . . . | 08 . . g.25854
GCGGACTCCTTCCACTACCACACCCTGGAGGAAGCCAAAGAG | TACATTAGGTGCCACAGA c.1920
A D S F H Y H T L E E A K E | Y I R C H R p.640
. . . . . g.25908
CCTGCCCCACTGACCATGGAGGATGCCCTGGAGGAGGTGAACAAGGAGCTGTGA c.1974
P A P L T M E D A L E E V N K E L X p.657
. . . . | 09 . . g.28720
gcgccagcaggtggagcttgacgtgacgtcttaacaaaag | caaagcaccgcagcttccca c.*60
. . . . . . g.28780
gagttaccagcgcagcacttaagacaggatcttacggcggggtggggctcctggaccgtg c.*120
. . . . . . g.28840
accggcgtcttcttcctggggagtacgacttggaccgggaccgcgactgggaccgggagc c.*180
. . . . . . g.28900
ggcttctggaggagcgcgacctgctccgacttctgcagggaagggtgcccaagggtcagc c.*240
. . . . . . g.28960
agcagccaggcgtcgtggggaggccacaggaagaggcctcaggcactgccctgaggcagc c.*300
. . . . . . g.29020
ctctgcctacctagatctggagcgggagtaggaacgggagcaggagcgcgaccttgacct c.*360
. . . . . . g.29080
tgagtacgagcctgaagacttggaggatcttgagttggagcgggaggaagaacgccctcg c.*420
. . . . . . g.29140
actcttggatctgctccgagacctcgagggtccgctgtggggagaggcctgatgatcagg c.*480
. . . . . . g.29200
tgccccagtggatgggctgcacccagcccaccctggccctcaggttcctagaccacccca c.*540
. . . . . . g.29260
gatgcaggggctctggctgtggatgtggcgccatagccacagcaacggtaccaagttcct c.*600
. . . . . . g.29320
aaatagtgtggccgagcctgctgctgtgtgaattcaggccttgtggaaaacaccgcccca c.*660
. . . . . . g.29380
taggcacaggctgtgtgagggtggacgtgatgagtgtatctggggtctgctcccacccat c.*720
. . . . . . g.29440
cacaagctgtggaccctggccccccggccactgcagacatctgcgcttttacctgttcct c.*780
. . . . . . g.29500
cttctcctggcctttcctccgccgggcccgcatttttgctcggaagaactcatagaggcc c.*840
. . . . . . g.29560
gttctgctcccagccttcactgtaagacacggcattccgtgtgtgaccacgtgacaccca c.*900
. . . . . . g.29620
cccacaaggaagtcgtgaaaaagtcatcaggagttaatccacagaaccttggagagtaca c.*960
. . . . . . g.29680
tggccctgtggctgtgggctccgagcatgggcgcagtagagcttggttcagtgttcccac c.*1020
. . . . . . g.29740
agggctgtcctcctgcagcccagtggctcctctggtgcccacgcccttgccaccctgctg c.*1080
. . . . . . g.29800
ttccgctgaggtggtggggacccatggtctgtggaactgggaaacaggaacactgactca c.*1140
. . . . . . g.29860
tgggtggacaggcctgcagcccagcacaggaaggaggggtgaccactgggaagggtgggc c.*1200
. . . . . . g.29920
tgagggccctgtggcagccggctgcttgagacgtgccgccgtgccacaccttccctaact c.*1260
. . . g.29959
tcttctgatgtgtctccattaaaacgcccttcattgagg c.*1299
(downstream sequence)
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