(used for variant description)
(last modified March 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_024592.4 in the SRD5A3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028230.1, covering SRD5A3 transcript NM_024592.4.(upstream sequence) . . . . . g.5056 ccgcgtcaccgacgtcccgctaggctgagaccggtgcgccgcgcgctagtggccgc c.-61 . . . . . . g.5116 tcttccgcgggctagcgggcggtgggggcgccagcagcgcggaaggcgggcacgcgggcc c.-1 . . . . . . g.5176 ATGGCTCCCTGGGCGGAGGCCGAGCACTCGGCGCTGAACCCGCTGCGCGCGGTGTGGCTC c.60 M A P W A E A E H S A L N P L R A V W L p.20 . . . . . . g.5236 ACGCTGACCGCCGCCTTCCTGCTGACCCTACTGCTGCAGCTCCTGCCGCCCGGCCTGCTC c.120 T L T A A F L L T L L L Q L L P P G L L p.40 . . . . . . g.5296 CCGGGCTGCGCGATCTTCCAGGACCTGATCCGCTATGGGAAAACCAAGTGTGGGGAGCCG c.180 P G C A I F Q D L I R Y G K T K C G E P p.60 . . . . | 02 . . g.18144 TCGCGCCCCGCCGCCTGCCGAGCCTTTGATGTCCCCAAGAG | ATATTTTTCCCACTTTTAT c.240 S R P A A C R A F D V P K R | Y F S H F Y p.80 . . . . . . g.18204 ATCATCTCAGTGCTGTGGAATGGCTTCCTGCTTTGGTGCCTTACTCAATCTCTGTTCCTG c.300 I I S V L W N G F L L W C L T Q S L F L p.100 . . . . . . g.18264 GGAGCACCTTTTCCAAGCTGGCTTCATGGTTTGCTCAGAATTCTCGGGGCGGCACAGTTC c.360 G A P F P S W L H G L L R I L G A A Q F p.120 | 03 . . . . . . g.22909 CAGG | GAGGGGAGCTGGCACTGTCTGCATTCTTAGTGCTAGTATTTCTGTGGCTGCACAGC c.420 Q G | G E L A L S A F L V L V F L W L H S p.140 . . . . . . g.22969 TTACGAAGACTCTTCGAGTGCCTCTACGTCAGTGTCTTCTCCAATGTCATGATTCACGTC c.480 L R R L F E C L Y V S V F S N V M I H V p.160 . . . . . . g.23029 GTGCAGTACTGTTTTGGACTTGTCTATTATGTCCTTGTTGGCCTAACTGTGCTGAGCCAA c.540 V Q Y C F G L V Y Y V L V G L T V L S Q p.180 . . | 04 . . . . g.26405 GTGCCAATGGATGGCAGGAATG | CCTACATAACAGGGAAAAATCTATTGATGCAAGCACGG c.600 V P M D G R N A | Y I T G K N L L M Q A R p.200 . . . . . . g.26465 TGGTTCCATATTCTTGGGATGATGATGTTCATCTGGTCATCTGCCCATCAGTATAAGTGC c.660 W F H I L G M M M F I W S S A H Q Y K C p.220 . . . | 05. . . g.28634 CATGTTATTCTCGGCAATCTCAGGAAAAATAAAGCAG | GAGTGGTCATTCACTGTAACCAC c.720 H V I L G N L R K N K A G | V V I H C N H p.240 . . . . . . g.28694 AGGATCCCATTTGGAGACTGGTTTGAATATGTTTCTTCCCCTAACTACTTAGCAGAGCTG c.780 R I P F G D W F E Y V S S P N Y L A E L p.260 . . . . . . g.28754 ATGATCTACGTTTCCATGGCCGTCACCTTTGGGTTCCACAACTTAACTTGGTGGCTAGTG c.840 M I Y V S M A V T F G F H N L T W W L V p.280 . . . . . . g.28814 GTGACAAATGTCTTCTTTAATCAGGCCCTGTCTGCCTTTCTCAGCCACCAATTCTACAAA c.900 V T N V F F N Q A L S A F L S H Q F Y K p.300 . . . . . g.28871 AGCAAATTTGTCTCTTACCCGAAGCATAGGAAAGCTTTCCTACCATTTTTGTTTTAA c.957 S K F V S Y P K H R K A F L P F L F X p.318 . . . . . . g.28931 gttaacctcagtcatgaagaatgcaaaccaggtgatggtttcaatgcctaaggacagtga c.*60 . . . . . . g.28991 agtctggagcccaaagtacagtttcagcaaagctgtttgaaactctccattccatttcta c.*120 . . . . . . g.29051 taccccacaagttttcactgaatgagcatggcagtgccactcaagaaaatgaatctccaa c.*180 . . . . . . g.29111 agtatcttcaaagaataaatactaatggcagatctgcgatttctgggtccactttctgag c.*240 . . . . . . g.29171 atgctttctaaaaccaaccaactgataaaaagtagatgagacttctccaagctgcttcac c.*300 . . . . . . g.29231 aagcaaactaaccgaaaaaccgaaaatatacaaacagcttcacacacacacacacacaca c.*360 . . . . . . g.29291 cacacacacacacacacacacaaaggaagatcatcaatggctgcggtagcctagtaggaa c.*420 . . . . . . g.29351 tggactatataataatatagcaggtgctcaataactgtttgttgcatttcagtaaaagca c.*480 . . . . . . g.29411 gaataacctttcaaaataataacaggctgggtgcaatggctcacacctgttaatcccagc c.*540 . . . . . . g.29471 acttcgggaggccaaggtgggcagttcgcttgggcccaagagttcgagaccagcctgggc c.*600 . . . . . . g.29531 aacatggtgaaaccctatctccgtgaaaaaatatgaaaattagccaagagtggtggcaca c.*660 . . . . . . g.29591 tgcctgtagtcccagatacttgggagtgggctgagatgggagaatcgcttgagcccagga c.*720 . . . . . . g.29651 ggtcaagggtacagtgagccgaggtcatgccactgcactccagcctggcctgggcaacag c.*780 . . . . . . g.29711 agcaagaccctgtctcaaaataataataatatataattttacaccaaaagtttcaggaaa c.*840 . . . . . . g.29771 aaacgagtttgttggagttagtttatactttcacatatcaccacaaagatctccagttaa c.*900 . . . . . . g.29831 ataactatcaatatccatttccattcatctccccctcaaatcatagcctaacagaacact c.*960 . . . . . . g.29891 ttgaaagctcttttatttaatatttttttacatcctttgaagggagtgcttcaaaaatga c.*1020 . . . . . . g.29951 aagcatcagaagataaaatatttttatatttatgcatagcaagccttcgtgaacggaagt c.*1080 . . . . . . g.30011 gacacactctggattgaataatactgtagcctcattcatatgtagttattcaaattggat c.*1140 . . . . . . g.30071 taatgtctgtgtgagtttatttgaactagcagaaagtatctgaagatattcaggaataaa c.*1200 . . . . . . g.30131 gtttatacttaaaatagcttatgttaaagaaaatacctgtgattaattcagagggaaata c.*1260 . . . . . . g.30191 aatgcatggtataaaagaaaaccaaaaacttaaaaaataatactatagcctgagcaacac c.*1320 . . . . . . g.30251 attaaaactgcacacttgtgcagcgtaagattctctggcttattggctgaggtgttaagt c.*1380 . . . . . . g.30311 ttattccttttatgaagatgtcctattacagtcagctaagcactaaagctttgcatttat c.*1440 . . . . . . g.30371 atgtactttgctatgggggaaagaaccttatgattaataagacacatatcaaatgcatag c.*1500 . . . . . . g.30431 tcaatcattcccacccccatccctggagctgtaacccaaaactgttaaactaagattcct c.*1560 . . . . . . g.30491 ttgttttttttgtttttttgagatggagtctcactctgtcgcccagactggagtgcagtg c.*1620 . . . . . . g.30551 gtgggatcctggctcactgcaacctccgccttctgggttccagcgattctcctctgcctc c.*1680 . . . . . . g.30611 agcctcccaagtagctgggattacaggcacatgccaccatgcccaggtaattgttgtatt c.*1740 . . . . . . g.30671 tttagtagagatagagtttcaccatgttggccaggctggtctcaaactcctgacctcagg c.*1800 . . . . . . g.30731 tgatccacctgcttcggcctcccaaagtgctgggattacaggtgtaagtcactgctcccg c.*1860 . . . . . . g.30791 gatgcatgtcaagcacattggaaagttcttacaacaattctgatggaggattttctctcc c.*1920 . . . . . . g.30851 catcaaccaaacaccacttaagattaacctgtggctcagtctacttaaataaatgccata c.*1980 . . . . . . g.30911 tttattttacttatcatttagaatttgccattctcaggaacaaaactttttgtacattgg c.*2040 . . . . . . g.30971 aaatggaaaacattgcagtttggtcttaatttccacatgaatatcaagtgtaatttttaa c.*2100 . . . . . . g.31031 taaattatttggagaaaaatgtattttattttagcatgcaattttatgcccaggttagac c.*2160 . . . . . . g.31091 tagagatttggctgatgttctggaatctcattgtactcttaagtaaaataacgagcatcc c.*2220 . . . . . . g.31151 catgacgcaccctgtcaggggttgtgagaaagctgcagtgtccagtttcccacccctgtt c.*2280 . . . . . . g.31211 tcctgctgtctctctcccactcatccctgtttcttactcatcccttttccttctttgccc c.*2340 . . . . . . g.31271 aaacatcatatttctaggcaaagataagagaggagatagtgatgtcctgaaaggggttca c.*2400 . . . . . . g.31331 gaacaacgtagcatggcctttggtgaaagcgtcaccgatgggaaataattgagaattgtg c.*2460 . . . . . . g.31391 cagtgcttgcagcgtcagaatcagcactgttttttgtgttggtgaaaatattccatgtgc c.*2520 . . . . . . g.31451 gtaaagggagagcatcagggactttgcaaattcttcacaaggacccagaaatagcttaaa c.*2580 . . . . . . g.31511 gattcatggttttcctgttggcttaaatagccttaatctttcattttctactaccattaa c.*2640 . . . . . . g.31571 gtcggggaaatgacattgaactacctcattagcagccttcccttgattaactactgacta c.*2700 . . . . . . g.31631 aaagtgtgctgaaaatggcctttgtttttgtgaagctcatcctatacactaacatttgct c.*2760 . . . . . . g.31691 taaccatggattattttgtctctacaaagctgtgccctgtattcgatttttacttcaatg c.*2820 . . . . . . g.31751 agtggttattgctagaattcctacaaaaaaaaaaaaaaccgttgcagatatttttgtatg c.*2880 . . . . . . g.31811 tagcttaatagatatttagtttaaggagactgcaacatttgcataaggtgcctaaaaact c.*2940 . . . . . . g.31871 caagaaccattgataagtgagatcactcaaaatgagctgatatattaaagaagaccttaa c.*3000 g.31880 aacagtaaa c.*3009 (downstream sequence)Legend:
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