(used for variant description)
(last modified October 19, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_001128225.2 in the SLC39A13 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering SLC39A13 transcript NM_001128225.2.
(upstream sequence)
. . . . . g.5056
ggcgcctcgggttccggacaggccccttgtgacgtggccgcgcgccgggggcggcc c.-121
. . . . . . g.5116
ccgggccgggggccgggcggccgggcggccgggcggggcagagcctgggcggggcgcggc c.-61
. . . . . . | 02 g.6600
accgcagctggatggctggggccgcccggatcgccgccgccgccgccgcacg | tacgtggc c.-1
. . . . . . g.6660
ATGCCTGGATGTCCCTGCCCTGGCTGTGGCATGGCGGGCCCAAGGCTCCTCTTCCTCACT c.60
M P G C P C P G C G M A G P R L L F L T p.20
. . . . . . g.6720
GCCCTTGCCCTGGAGCTCTTGGAAAGGGCTGGGGGTTCCCAGCCGGCCCTCCGGAGCCGG c.120
A L A L E L L E R A G G S Q P A L R S R p.40
. . . . . . g.6780
GGGACTGCGACGGCCTGTCGCCTGGACAACAAGGAAAGCGAGTCCTGGGGGGCTCTGCTG c.180
G T A T A C R L D N K E S E S W G A L L p.60
. . . . . . g.6840
AGCGGAGAGCGGCTGGACACCTGGATCTGCTCCCTCCTGGGTTCCCTCATGGTGGGGCTC c.240
S G E R L D T W I C S L L G S L M V G L p.80
. . . . . . g.6900
AGTGGGGTCTTCCCGTTGCTTGTCATTCCCCTAGAGATGGGGACCATGCTGCGCTCAGAA c.300
S G V F P L L V I P L E M G T M L R S E p.100
| 03 . . . . . . g.8490
G | CTGGGGCCTGGCGCCTGAAGCAGCTGCTCAGCTTCGCCCTGGGGGGACTCTTGGGCAAT c.360
A | G A W R L K Q L L S F A L G G L L G N p.120
. . . . . | 04 . g.8856
GTGTTTCTGCATCTGCTGCCCGAAGCCTGGGCCTACACGTGCAGCGCCAGCCCTG | GTGGT c.420
V F L H L L P E A W A Y T C S A S P G | G p.140
. . . . . . g.8916
GAGGGGCAGAGCCTGCAGCAGCAGCAACAGCTGGGGCTGTGGGTCATTGCTGGCATCCTG c.480
E G Q S L Q Q Q Q Q L G L W V I A G I L p.160
. . . . . | 05. g.9908
ACCTTCCTGGCGTTGGAGAAGATGTTCCTGGACAGCAAGGAGGAGGGGACCAGCCAG | GCC c.540
T F L A L E K M F L D S K E E G T S Q | A p.180
. . . . . . g.9968
CCCAACAAAGACCCCACTGCTGCTGCCGCCGCGCTCAATGGAGGCCACTGTCTGGCCCAG c.600
P N K D P T A A A A A L N G G H C L A Q p.200
. . . . | 06 . . g.10117
CCGGCTGCAGAGCCCGGCCTCGGTGCCGTGGTCCGGAGCATCAAA | GTCAGCGGCTACCTC c.660
P A A E P G L G A V V R S I K | V S G Y L p.220
. . . . . . g.10177
AACCTGCTGGCCAACACCATCGATAACTTCACCCACGGGCTGGCTGTGGCTGCCAGCTTC c.720
N L L A N T I D N F T H G L A V A A S F p.240
. | 07 . . . . . g.10975
CTTGTGAGCAAGAAG | ATCGGGCTCCTGACAACCATGGCCATCCTCCTGCATGAGATCCCC c.780
L V S K K | I G L L T T M A I L L H E I P p.260
| 08 . . . . . . g.11336
CATGAG | GTGGGCGACTTTGCCATCCTGCTCCGGGCCGGCTTTGACCGATGGAGCGCAGCC c.840
H E | V G D F A I L L R A G F D R W S A A p.280
. . . . . . g.11396
AAGCTGCAACTCTCAACAGCGCTGGGGGGCCTACTGGGCGCTGGCTTCGCCATCTGTACC c.900
K L Q L S T A L G G L L G A G F A I C T p.300
. | 09 . . . . g.11585
CAGTCCCCCAAGGGAGTAG | TTGGGTGTTCTCCCGCTGCAGAGGAGACGGCAGCCTGGGTC c.960
Q S P K G V V | G C S P A A E E T A A W V p.320
. . . . . . g.11645
CTGCCCTTCACCTCTGGCGGCTTTCTCTACATCGCCTTGGTGAACGTGCTCCCTGACCTC c.1020
L P F T S G G F L Y I A L V N V L P D L p.340
. . | 10 . . . . g.11833
TTGGAAGAAGAGGACCCGTG | GCGCTCCCTGCAGCAGCTGCTTCTGCTCTGTGCGGGCATC c.1080
L E E E D P W | R S L Q Q L L L L C A G I p.360
. . . g.11869
GTGGTAATGGTGCTGTTCTCGCTCTTCGTGGATTAA c.1116
V V M V L F S L F V D X p.371
. . . . . . g.11929
ctttccctgatgccgacgcccctgccccctgcagcaataagatgctcggattcactctgt c.*60
. . . . . . g.11989
gaccgcatatgtgagaggcagagagggcgagtggctgcgagagagaatgagcctcccgcc c.*120
. . . . . . g.12049
agacaggagggaggtgcgtgtggatgtatgtggtgtgcacatgtggccagaggtgtgtgc c.*180
. . . . . . g.12109
gcgagaccgacactgtgatccctgtgctgggtccggggcccagtgtagcgcctgtcccca c.*240
. . . . . . g.12169
gccatgctgtggttacctctccttgccgccctgtcaccttcacctcccggagtaagcagc c.*300
. . . . . . g.12229
gaggaagagcagcactggtcccaagcagaggccttgccctgctgggaccccgggagtgag c.*360
. . . . . . g.12289
agcagcccaaggatccagggtgcagggaactccagagctgcccacctcccactgccccct c.*420
. . . . . . g.12349
cagcacacacacagtccccaggcggcctaggggccaaggctggggcggctttggtccctt c.*480
. . . . . . g.12409
ttcctggcccttccttccccacttctaagccaaagaaaggagaggcaggtgctcctgtac c.*540
. . . . . . g.12469
cccagccccactcagcactgacagtccccagctcctagtagtgagctgggaggcgcttcc c.*600
. . . . . . g.12529
taagaccctttcctcagggctgccctgggagctcattcctggccaacacgccctggcagc c.*660
. . . . . . g.12589
accagcagctcttgccacctccagctgccaaacagcagcctgccgggcagggagcagccc c.*720
. . . . . . g.12649
caggccagagaggcctcccggtccagctcagggatgctcctgccagcacaggggccaggg c.*780
. . . . . . g.12709
actcctggagcaggcacatagtgagcccgggcagccctgcccagctcaggcccctttcct c.*840
. . . . . . g.12769
tccccattgaggttggggtaggtgggggcggtgagggctccacgttgtcagcgctcagga c.*900
. . . . . . g.12829
atgtgctccggcagagtgctgaagccataatccccaaccatttcccttggctgacgccca c.*960
. . . . . . g.12889
ggtactcagctggcccactccacagccaggcctggccctgcccttcaccgtggatgtttt c.*1020
. . . . . . g.12949
cagaagtggccatcgagaggtctggatggttttatagcaactttgctgtgattccgtttg c.*1080
. . . . . g.13006
tatctgtaaatatttgttctatagataagatacaaataaatattatccacatactgg c.*1137
(downstream sequence)
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