(used for variant description)
(last modified February 12, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_005172.1 in the ATOH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering ATOH1 transcript NM_005172.1.
(upstream sequence)
. . . . . . g.60
ATGTCCCGCCTGCTGCATGCAGAAGAGTGGGCTGAAGTGAAGGAGTTGGGAGACCACCAT c.60
M S R L L H A E E W A E V K E L G D H H p.20
. . . . . . g.120
CGCCAGCCCCAGCCGCATCATCTCCCGCAACCGCCGCCGCCGCCGCAGCCACCTGCAACT c.120
R Q P Q P H H L P Q P P P P P Q P P A T p.40
. . . . . . g.180
TTGCAGGCGAGAGAGCATCCCGTCTACCCGCCTGAGCTGTCCCTCCTGGACAGCACCGAC c.180
L Q A R E H P V Y P P E L S L L D S T D p.60
. . . . . . g.240
CCACGCGCCTGGCTGGCTCCCACTTTGCAGGGCATCTGCACGGCACGCGCCGCCCAGTAT c.240
P R A W L A P T L Q G I C T A R A A Q Y p.80
. . . . . . g.300
TTGCTACATTCCCCGGAGCTGGGTGCCTCAGAGGCCGCTGCGCCCCGGGACGAGGTGGAC c.300
L L H S P E L G A S E A A A P R D E V D p.100
. . . . . . g.360
GGCCGGGGGGAGCTGGTAAGGAGGAGCAGCGGCGGTGCCAGCAGCAGCAAGAGCCCCGGG c.360
G R G E L V R R S S G G A S S S K S P G p.120
. . . . . . g.420
CCGGTGAAAGTGCGGGAACAGCTGTGCAAGCTGAAAGGCGGGGTGGTGGTAGACGAGCTG c.420
P V K V R E Q L C K L K G G V V V D E L p.140
. . . . . . g.480
GGCTGCAGCCGCCAACGGGCCCCTTCCAGCAAACAGGTGAATGGGGTGCAGAAGCAGAGA c.480
G C S R Q R A P S S K Q V N G V Q K Q R p.160
. . . . . . g.540
CGGCTAGCAGCCAACGCCAGGGAGCGGCGCAGGATGCATGGGCTGAACCACGCCTTCGAC c.540
R L A A N A R E R R R M H G L N H A F D p.180
. . . . . . g.600
CAGCTGCGCAATGTTATCCCGTCGTTCAACAACGACAAGAAGCTGTCCAAATATGAGACC c.600
Q L R N V I P S F N N D K K L S K Y E T p.200
. . . . . . g.660
CTGCAGATGGCCCAAATCTACATCAACGCCTTGTCCGAGCTGCTACAAACGCCCAGCGGA c.660
L Q M A Q I Y I N A L S E L L Q T P S G p.220
. . . . . . g.720
GGGGAACAGCCACCGCCGCCTCCAGCCTCCTGCAAAAGCGACCACCACCACCTTCGCACC c.720
G E Q P P P P P A S C K S D H H H L R T p.240
. . . . . . g.780
GCGGCCTCCTATGAAGGGGGCGCGGGCAACGCGACCGCAGCTGGGGCTCAGCAGGCTTCC c.780
A A S Y E G G A G N A T A A G A Q Q A S p.260
. . . . . . g.840
GGAGGGAGCCAGCGGCCGACCCCGCCCGGGAGTTGCCGGACTCGCTTCTCAGCCCCAGCT c.840
G G S Q R P T P P G S C R T R F S A P A p.280
. . . . . . g.900
TCTGCGGGAGGGTACTCGGTGCAGCTGGACGCTCTGCACTTCTCGACTTTCGAGGACAGC c.900
S A G G Y S V Q L D A L H F S T F E D S p.300
. . . . . . g.960
GCCCTGACAGCGATGATGGCGCAAAAGAATTTGTCTCCTTCTCTCCCCGGGAGCATCTTG c.960
A L T A M M A Q K N L S P S L P G S I L p.320
. . . . . . g.1020
CAGCCAGTGCAGGAGGAAAACAGCAAAACTTCGCCTCGGTCCCACAGAAGCGACGGGGAA c.1020
Q P V Q E E N S K T S P R S H R S D G E p.340
. . . . g.1065
TTTTCCCCCCATTCCCATTACAGTGACTCGGATGAGGCAAGTTAG c.1065
F S P H S H Y S D S D E A S X p.354
(downstream sequence)
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