(used for variant description)
(last modified October 13, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_012264.4 in the TMEM184B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering TMEM184B transcript NM_012264.4.
(upstream sequence)
. . g.5029
agagcgcatgcgcgccgcggctgcactcc c.-181
. . . . . . g.5089
actgggcccgggacgcgccggcggcggcggagactccggggctgcggcgccgcccgcccc c.-121
. . . . . . g.5149
gcccgcagagtccggctgccgcgcatcgtccgcagacgccgccaccgccatgggctcctg c.-61
. | 02 . . . . . g.30073
ag | gctagcttgtcactttctgcaaaggtttccctcagggagcctcctgctgccaggcacc c.-1
. . . . . . g.30133
ATGACAGTGAGGGGGGATGTGCTGGCCCCGGATCCAGCGTCGCCCACGACCGCAGCAGCC c.60
M T V R G D V L A P D P A S P T T A A A p.20
. . . . . . g.30193
TCGCCCAGCGTCTCCGTGATCCCCGAGGGCAGCCCCACTGCCATGGAGCAGCCTGTGTTC c.120
S P S V S V I P E G S P T A M E Q P V F p.40
. . . . . . g.30253
CTGATGACAACTGCCGCTCAGGCCATCTCTGGCTTCTTCGTGTGGACGGCCCTGCTCATC c.180
L M T T A A Q A I S G F F V W T A L L I p.60
. | 03 . . . . . g.31982
ACATGCCACCAG | ATCTACATGCACCTGCGCTGCTACAGCTGCCCCAACGAGCAGCGCTAC c.240
T C H Q | I Y M H L R C Y S C P N E Q R Y p.80
. . . . . . g.32042
ATCGTGCGCATCCTCTTCATCGTGCCCATCTACGCCTTTGACTCCTGGCTCAGCCTCCTC c.300
I V R I L F I V P I Y A F D S W L S L L p.100
. . . . . | 04 g.46702
TTCTTCACCAACGACCAGTACTACGTGTACTTCGGCACCGTCCGCGACTGCTATGAGG | CC c.360
F F T N D Q Y Y V Y F G T V R D C Y E A | p.120
. . . . . . g.46762
TTGGTCATCTATAATTTCCTGAGCCTGTGCTATGAGTACCTAGGAGGAGAAAGTTCCATC c.420
L V I Y N F L S L C Y E Y L G G E S S I p.140
. . | 05 . . . g.47321
ATGTCGGAGATCAGAGGAAAACCCATTGA | GTCCAGCTGTATGTATGGCACCTGCTGCCTC c.480
M S E I R G K P I E | S S C M Y G T C C L p.160
. . . . | 06 . . g.51178
TGGGGAAAGACTTATTCCATCGGATTTCTGAGGTTCTGCAAACAG | GCCACCCTGCAGTTC c.540
W G K T Y S I G F L R F C K Q | A T L Q F p.180
. . . . . . g.51238
TGTGTGGTGAAGCCACTCATGGCGGTCAGCACTGTGGTCCTCCAGGCCTTCGGCAAGTAC c.600
C V V K P L M A V S T V V L Q A F G K Y p.200
. | 07. . . . . g.52483
CGGGATGGGGACTTTGA | CGTCACCAGTGGCTACCTCTACGTGACCATCATCTACAACATC c.660
R D G D F D | V T S G Y L Y V T I I Y N I p.220
. . . . . . g.52543
TCCGTCAGCCTGGCCCTCTACGCCCTCTTCCTCTTCTACTTCGCCACCCGGGAGCTGCTC c.720
S V S L A L Y A L F L F Y F A T R E L L p.240
. . . . . . g.52603
AGCCCCTACAGCCCCGTCCTCAAGTTCTTCATGGTCAAGTCCGTCATCTTTCTTTCCTTC c.780
S P Y S P V L K F F M V K S V I F L S F p.260
| 08. . . . . . g.53107
TGGCAAG | GCATGCTCCTGGCCATCCTGGAGAAGTGTGGGGCCATCCCCAAAATCCACTCG c.840
W Q G | M L L A I L E K C G A I P K I H S p.280
. . . . . . g.53167
GCCCGCGTGTCGGTGGGCGAGGGCACCGTGGCTGCCGGCTACCAGGACTTCATCATCTGT c.900
A R V S V G E G T V A A G Y Q D F I I C p.300
. . . . . . g.53227
GTGGAGATGTTCTTTGCAGCCCTGGCCCTGCGGCACGCCTTCACCTACAAGGTCTATGCT c.960
V E M F F A A L A L R H A F T Y K V Y A p.320
. . | 09 . . . . g.56361
GACAAGAGGCTGGACGCACAAG | GCCGCTGTGCCCCCATGAAGAGCATCTCCAGCAGCCTC c.1020
D K R L D A Q G | R C A P M K S I S S S L p.340
. . . . . . g.56421
AAGGAGACCATGAACCCGCACGACATCGTGCAGGACGCCATCCACAACTTCTCACCTGCC c.1080
K E T M N P H D I V Q D A I H N F S P A p.360
. . . . . . g.56481
TACCAGCAGTACACGCAGCAGTCCACCCTGGAGCCTGGGCCCACCTGGCGTGGTGGCGCC c.1140
Y Q Q Y T Q Q S T L E P G P T W R G G A p.380
. . . . . . g.56541
CACGGCCTCTCCCGCTCCCACAGCCTCAGTGGCGCCCGCGACAACGAGAAGACTCTCCTG c.1200
H G L S R S H S L S G A R D N E K T L L p.400
. . g.56565
CTCAGCTCTGATGATGAATTCTAG c.1224
L S S D D E F X p.407
. . . . . . g.56625
gtgcgggctgcagtggcggaagtgctggcgccatagccacggtcaggctgtgccccacct c.*60
. . . . . . g.56685
ccagcctcaccaccaggccaggaggcagctggcacagtgctcacgccgcctttatttatt c.*120
. . . . . . g.56745
ggaccagaaacactcacatgtcacttccagaggaacgggggacagccaggctcgcccatg c.*180
. . . . . . g.56805
ggccttcaggaatatttatacatggcccagcctgcactgcccgggcgagggcagaggaca c.*240
. . . . . . g.56865
ctgggagcaaggcttatgcccctgctgcccgtcctgtgctgggggcatgctgggaccagc c.*300
. . . . . . g.56925
cgcacccaggccccaatgcttgtgtgtggaccagcggctgcagccttctagcccctcctc c.*360
. . . . . . g.56985
cccgcgagactctcaggctgaggtcggcaagccgtggctcccccacacaccgtgcaatac c.*420
. . . . . . g.57045
cctgtctgacctgggctcttcccgcctgcatccctcccctgtccacctttgtccagtgct c.*480
. . . . . . g.57105
agattcacctcaccccgggcaggagtggggatgtgggcgctctgtggtcctcccctcctg c.*540
. . . . . . g.57165
acccaggcctctgtggcatgctgcaaggatcagagccagacaccaggagtcacaggcccc c.*600
. . . . . . g.57225
acccaggaagggcattcagggcccctgggcaccgcttctgttgaagcaggggcttctggg c.*660
. . . . . . g.57285
cccctgggtatccccacctgtcgtggccacacctctgcctgcctcatgccccttccccct c.*720
. . . . . . g.57345
ggcctaccaaggacagcccacagcccgcactgccggctcacttgggtccttcctcgatag c.*780
. . . . . . g.57405
ctttgggcagagcccttgcttcctggctgcttcagggctcaggggctcccagccctcctt c.*840
. . . . . . g.57465
cccaggctgatgctgggtcctctctctctttggggcttctccctcccgtttcaggggaaa c.*900
. . . . . . g.57525
ggtctgagtctccacgtttcagaccagcttctgggggaaggcagtccggcagggagaccg c.*960
. . . . . . g.57585
ggaggggtggccacacagtggggagctgggaggtggggggaatggtcccagactcctctc c.*1020
. . . . . . g.57645
ggggcccctatccacacagggcctggtgttctaccccatctggcccctggcccatctctt c.*1080
. . . . . . g.57705
ctgtgccttagtcacatatgaaagcgcccctccctggctccccatctgtcccacacgctc c.*1140
. . . . . . g.57765
cctggggctcttagttcagctgctggcactcgcaggatcctgcagtgctgggcccagagc c.*1200
. . . . . . g.57825
ccttggacaggcctcaggagtggtcaggaccaccaagcccctcctctccccctccacacc c.*1260
. . . . . . g.57885
tctagacctggggcctccggaacccccagcaggctgggcttatactagctcctgacttag c.*1320
. . . . . . g.57945
gaagagcctcgtgtcacaacacgtgtccctacaggcaaagtgtcctggcatttaaaaccc c.*1380
. . . . . . g.58005
agattatccctgggtttgggctgcagtcacctggagaagctggtagggtaagggagaggg c.*1440
. . . . . . g.58065
accctgccggtgttcactggggattctttcttttggtccttcctggaatgaacaggttcc c.*1500
. . . . . . g.58125
ctccctgccacctgtgaggagagttggggcccagccgtcttcctggcctccttcctttcc c.*1560
. . . . . . g.58185
tcgtggcagaggcctgcatgtgggtgccagaggccagctctccccctccatcttgggggg c.*1620
. . . . . . g.58245
gcggagcagttgggcccaagctgcccgggagggtgggtgcagacacaggctgaggaccag c.*1680
. . . . . . g.58305
ccctggccctgccccgccatctgctttcaccaagctgtctctccaccgtggcttcccttc c.*1740
. . . . . . g.58365
tccctccaggccaaagtgctgctgattcccactcccttggttttcgcctgcccagcgttg c.*1800
. . . . . . g.58425
ctgtttgcgtggagggtggggggagctcagtggcagggaatcagcggtccgtggggtcgt c.*1860
. . . . . . g.58485
ggggacgggaacatgtgcccgaccgctccatcccctcctcctccttaggatgcataacct c.*1920
. . . . . . g.58545
accttgtcttttttttttttaattttctttccaggtagagtagctctttgtacataaaga c.*1980
. . . . . . g.58605
atacttgaaaaattaattgtatgatgtatgagaagacagagtctcctagttttgtatctt c.*2040
. . . . . . g.58665
gttgtatgactgccatgagttccaccagaaagccactctattttggtctctgtgacattt c.*2100
. . . . . . g.58725
taaatgcgtgacagaagtgagcaaataaagtgaggaagaaatctatatatgagataatat c.*2160
. g.58743
agattgtattgaaatctc c.*2178
(downstream sequence)
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