(used for variant description)
(last modified April 26, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_000376.2 in the VDR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering VDR transcript NM_000376.2.
(upstream sequence)
. . . . g.5040
ctgcttgtcaaaaggcggcagcggagccgtgtgcgccggg c.-121
. . . . | 02 . . g.27280
agcgcggaacagcttgtccacccgccggccggaccag | aagcctttgggtctgaagtgtct c.-61
. . . . . . | 03 g.30918
gtgagacctcacagaagagcacccctgggctccacttacctgccccctgctccttcag | gg c.-1
. . . . . . g.30978
ATGGAGGCAATGGCGGCCAGCACTTCCCTGCCTGACCCTGGAGACTTTGACCGGAACGTG c.60
M E A M A A S T S L P D P G D F D R N V p.20
. . . . . . g.31038
CCCCGGATCTGTGGGGTGTGTGGAGACCGAGCCACTGGCTTTCACTTCAATGCTATGACC c.120
P R I C G V C G D R A T G F H F N A M T p.40
. . | 04 . . . . g.44888
TGTGAAGGCTGCAAAGGCTTCTTCAG | GCGAAGCATGAAGCGGAAGGCACTATTCACCTGC c.180
C E G C K G F F R | R S M K R K A L F T C p.60
. . . . . . g.44948
CCCTTCAACGGGGACTGCCGCATCACCAAGGACAACCGACGCCACTGCCAGGCCTGCCGG c.240
P F N G D C R I T K D N R R H C Q A C R p.80
. . . | 05. . . g.52366
CTCAAACGCTGTGTGGACATCGGCATGATGAAGGAGT | TCATTCTGACAGATGAGGAAGTG c.300
L K R C V D I G M M K E F | I L T D E E V p.100
. . . . . . g.52426
CAGAGGAAGCGGGAGATGATCCTGAAGCGGAAGGAGGAGGAGGCCTTGAAGGACAGTCTG c.360
Q R K R E M I L K R K E E E A L K D S L p.120
. . . . . . g.52486
CGGCCCAAGCTGTCTGAGGAGCAGCAGCGCATCATTGCCATACTGCTGGACGCCCACCAT c.420
R P K L S E E Q Q R I I A I L L D A H H p.140
. . . . | 06 . . g.52800
AAGACCTACGACCCCACCTACTCCGACTTCTGCCAGTTCCGG | CCTCCAGTTCGTGTGAAT c.480
K T Y D P T Y S D F C Q F R | P P V R V N p.160
. . . . . . g.52860
GATGGTGGAGGGAGCCATCCTTCCAGGCCCAACTCCAGACACACTCCCAGCTTCTCTGGG c.540
D G G G S H P S R P N S R H T P S F S G p.180
. . . . | 07 . . g.54247
GACTCCTCCTCCTCCTGCTCAGATCACTGTATCACCTCTTCAG | ACATGATGGACTCGTCC c.600
D S S S S C S D H C I T S S D | M M D S S p.200
. . . . . . g.54307
AGCTTCTCCAATCTGGATCTGAGTGAAGAAGATTCAGATGACCCTTCTGTGACCCTAGAG c.660
S F S N L D L S E E D S D D P S V T L E p.220
. . . . . . g.54367
CTGTCCCAGCTCTCCATGCTGCCCCACCTGGCTGACCTGGTCAGTTACAGCATCCAAAAG c.720
L S Q L S M L P H L A D L V S Y S I Q K p.240
. . . | 08 . . . g.63248
GTCATTGGCTTTGCTAAGATGATACCAGGATTCAG | AGACCTCACCTCTGAGGACCAGATC c.780
V I G F A K M I P G F R | D L T S E D Q I p.260
. . . . . . g.63308
GTACTGCTGAAGTCAAGTGCCATTGAGGTCATCATGTTGCGCTCCAATGAGTCCTTCACC c.840
V L L K S S A I E V I M L R S N E S F T p.280
. . . . . . g.63368
ATGGACGACATGTCCTGGACCTGTGGCAACCAAGACTACAAGTACCGCGTCAGTGACGTG c.900
M D D M S W T C G N Q D Y K Y R V S D V p.300
| 09. . . . . . g.63633
ACCAAAG | CCGGACACAGCCTGGAGCTGATTGAGCCCCTCATCAAGTTCCAGGTGGGACTG c.960
T K A | G H S L E L I E P L I K F Q V G L p.320
. . . . . . g.63693
AAGAAGCTGAACTTGCATGAGGAGGAGCATGTCCTGCTCATGGCCATCTGCATCGTCTCC c.1020
K K L N L H E E E H V L L M A I C I V S p.340
| 10 . . . . . . g.65082
CCAG | ATCGTCCTGGGGTGCAGGACGCCGCGCTGATTGAGGCCATCCAGGACCGCCTGTCC c.1080
P D | R P G V Q D A A L I E A I Q D R L S p.360
. . . . . . g.65142
AACACACTGCAGACGTACATCCGCTGCCGCCACCCGCCCCCGGGCAGCCACCTGCTCTAT c.1140
N T L Q T Y I R C R H P P P G S H L L Y p.380
. . . . . . g.65202
GCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAG c.1200
A K M I Q K L A D L R S L N E E H S K Q p.400
. . . . . . g.65262
TACCGCTGCCTCTCCTTCCAGCCTGAGTGCAGCATGAAGCTAACGCCCCTTGTGCTCGAA c.1260
Y R C L S F Q P E C S M K L T P L V L E p.420
. . g.65286
GTGTTTGGCAATGAGATCTCCTGA c.1284
V F G N E I S X p.427
. . . . . . g.65346
ctaggacagcctgtggcggtgcctgggtggggctgctcctccagggccacgtgccaggcc c.*60
. . . . . . g.65406
cggggctggcggctactcagcagccctcctcaccccgtctggggttcagcccctcctctg c.*120
. . . . . . g.65466
ccacctcccctatccacccagcccattctctctcctgtccaacctaacccctttcctgcg c.*180
. . . . . . g.65526
ggcttttccccggtcccttgagacctcagccatgaggagttgctgtttgtttgacaaaga c.*240
. . . . . . g.65586
aacccaagtgggggcagagggcagaggctggaggcagggccttgcccagagatgcctcca c.*300
. . . . . . g.65646
ccgctgcctaagtggctgctgactgatgttgagggaacagacaggagaaatgcatccatt c.*360
. . . . . . g.65706
cctcagggacagagacacctgcacctccccccactgcaggccccgcttgtccagcgccta c.*420
. . . . . . g.65766
gtggggtctccctctcctgcctactcacgataaataatcggcccacagctcccaccccac c.*480
. . . . . . g.65826
ccccttcagtgcccaccaacatcccattgccctggttatattctcacgggcagtagctgt c.*540
. . . . . . g.65886
ggtgaggtgggttttcttcccatcactggagcaccaggcacgaacccacctgctgagaga c.*600
. . . . . . g.65946
cccaaggaggaaaaacagacaaaaacagcctcacagaagaatatgacagctgtccctgtc c.*660
. . . . . . g.66006
accaagctcacagttcctcgccctgggtctaaggggttggttgaggtggaagccctcctt c.*720
. . . . . . g.66066
ccacggatccatgtagcaggactgaattgtccccagtttgcagaaaagcacctgccgacc c.*780
. . . . . . g.66126
tcgtcctccccctgccagtgccttacctcctgcccaggagagccagccctccctgtcctc c.*840
. . . . . . g.66186
ctcggatcaccgagagtagccgagagcctgctcccccaccccctccccaggggagagggt c.*900
. . . . . . g.66246
ctggagaagcagtgagccgcatcttctccatctggcagggtgggatggaggagaagaatt c.*960
. . . . . . g.66306
ttcagaccccagcggctgagtcatgatctccctgccgcctcaatgtggttgcaaggccgc c.*1020
. . . . . . g.66366
tgttcacccacagggctaagagctagcgctgccgcaccccagagtgtgggaagggagagc c.*1080
. . . . . . g.66426
ggggcagtctcgggtggctagtcagagagagtgtttgggggttccgtgatgtagggtaag c.*1140
. . . . . . g.66486
gtgccttcttattctcactccaccacccaaaagtcaaaaggtgcctgtgaggcaggggcg c.*1200
. . . . . . g.66546
gagtgatacaacttcaagtgcatgctctctgcagccagcccagcccagctggtgggaagc c.*1260
. . . . . . g.66606
gtctgtccgtttactccaaggtggggtctttgtgagagtgagctgtaggtgtgcgggacc c.*1320
. . . . . . g.66666
ggtacagaaaggcgttcttcgaggtggatcacagaggcttcttcagatcagtgcttgagt c.*1380
. . . . . . g.66726
ttggggaatgcggccgcattccctgagtcaccaggaatgttaaagtcagtgggaacgtga c.*1440
. . . . . . g.66786
ctgccccaactcctggaagctgtgtccttgcacctgcatccgtagttccctgaaaaccca c.*1500
. . . . . . g.66846
gagaggaatcagacttcacactgcaagagccttggtgtccacctggccccatgtctctca c.*1560
. . . . . . g.66906
gaattcttcaggtggaaaaacatctgaaagccacgttccttactgcagaatagcatatat c.*1620
. . . . . . g.66966
atcgcttaatcttaaatttattagatatgagttgttttcagactcagactccatttgtat c.*1680
. . . . . . g.67026
tatagtctaatatacagggtagcaggtaccactgatttggagatatttatggggggagaa c.*1740
. . . . . . g.67086
cttacattgtgaaacttctgtacattaattattattgctgttgttattttacaagggtct c.*1800
. . . . . . g.67146
agggagagacccttgtttgattttagctgcagaacgtattggtccagcttgctcttcagt c.*1860
. . . . . . g.67206
gggagaaaacacttgtaagttgctaaacgagtcaatcccctcattcaggaaaactgacag c.*1920
. . . . . . g.67266
aggagggcgtgactcacccaagcatatataactagctagaagtgggccaggacaggcccg c.*1980
. . . . . . g.67326
gcgcggtggctcacgcctgtaatcccagcagtttgggaggtcgaggtaggtggatcacct c.*2040
. . . . . . g.67386
gaggtcgggagttcgagaccaacctgaccaacatggagaaaccctgtctctattaaaaat c.*2100
. . . . . . g.67446
acaaaaaaaaaaaaaaaaaaaatagccgggcatggtggcgcaagcctgtaatcccagcta c.*2160
. . . . . . g.67506
ctcaggaggctgaggcagaagaattgaacccaggaggtggaggttgcagtgagctgagat c.*2220
. . . . . . g.67566
cgtgccgttactctccaacctggacaacaagagcgaaactccgtcttagaagtggaccag c.*2280
. . . . . . g.67626
gacaggaccagattttggagtcatggtccggtgtccttttcactacaccatgtttgagct c.*2340
. . . . . . g.67686
cagacccccactctcattccccaggtggctgacccagtccctgggggaagccctggattt c.*2400
. . . . . . g.67746
cagaaagagcaagtctggatctgggaccctttccttccttccctggcttgtaactccacc c.*2460
. . . . . . g.67806
aacccatcagaaggagaaggaaggagactcacctctgcctcaatgtgaatcagaccctac c.*2520
. . . . . . g.67866
cccaccacgatgtggccctggcctgctgggctctccacctcagccttggataatgctgtt c.*2580
. . . . . . g.67926
gcctcatctataacatgcatttgtctttgtaatgtcaccaccttcccagctctccctctg c.*2640
. . . . . . g.67986
gccctgccttcttcggggaactcctggaaatatcagttactcagccctgggccccaccac c.*2700
. . . . . . g.68046
ctaggccactcctccaaaggaagtctaggagctgggaggaaaagaaaagaggggaaaatg c.*2760
. . . . . . g.68106
agtttttatggggctgaacggggagaaaaggtcatcatcgattctactttagaatgagag c.*2820
. . . . . . g.68166
tgtgaaatagacatttgtaaatgtaaaacttttaaggtatatcattataactgaaggaga c.*2880
. . . . . . g.68226
aggtgccccaaaatgcaagattttccacaagattcccagagacaggaaaatcctctggct c.*2940
. . . . . . g.68286
ggctaactggaagcatgtaggagaatccaagcgaggtcaacagagaaggcaggaatgtgt c.*3000
. . . . . . g.68346
ggcagatttagtgaaagctagagatatggcagcgaaaggatgtaaacagtgcctgctgaa c.*3060
. . . . . . g.68406
tgatttccaaagagaaaaaaagtttgccagaagtttgtcaagtcaaccaatgtagaaagc c.*3120
. . . . . . g.68466
tttgcttatggtaataaaaatggctcatacttatatagcacttactttgttgcaagtact c.*3180
. . g.68495
gctgtaaataaatgctttatgcaaaccaa c.*3209
(downstream sequence)
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