Canonical Allele Identifier: CA342572
Gene: OTOF HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26466712A>C , CM000664.2:g.26466712A>C GRCh38
NC_000002.11:g.26689580A>C , CM000664.1:g.26689580A>C GRCh37
NC_000002.10:g.26543084A>C NCBI36
NG_009937.1:g.96987T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.4500+2T>G MANE Select ENSP00000272371.2:n.4500+2T>G
ENST00000339598.8:c.2199+2T>G MANE Plus Clinical ENSP00000344521.3:n.2199+2T>G
ENST00000402415.8:c.2259+2T>G ENSP00000383906.4:n.2259+2T>G
ENST00000272371.6:c.4500+2T>G ENSP00000272371.2:n.4500+2T>G
ENST00000338581.10:c.2199+2T>G ENSP00000345137.6:n.2199+2T>G
ENST00000339598.7:c.2199+2T>G ENSP00000344521.3:n.2199+2T>G
ENST00000402415.7:c.2430+2T>G ENSP00000383906.3:n.2430+2T>G
ENST00000403946.7:c.4500+2T>G ENSP00000385255.3:n.4500+2T>G
NM_001287489.1:c.4500+2T>G NP_001274418.1:n.4500+2T>G
NM_004802.3:c.2199+2T>G NP_004793.2:n.2199+2T>G
NM_194248.2:c.4500+2T>G NP_919224.1:n.4500+2T>G
NM_194322.2:c.2430+2T>G NP_919303.1:n.2430+2T>G
NM_194323.2:c.2199+2T>G NP_919304.1:n.2199+2T>G
XM_005264644.2:c.4485+2T>G XP_005264701.1:n.4485+2T>G
XM_011533185.1:c.4545+2T>G XP_011531487.1:n.4545+2T>G
XM_017005338.1:c.4440+2T>G XP_016860827.1:n.4440+2T>G
NM_001287489.2:c.4500+2T>G NP_001274418.1:n.4500+2T>G
NM_004802.4:c.2199+2T>G NP_004793.2:n.2199+2T>G
NM_194248.3:c.4500+2T>G MANE Select NP_919224.1:n.4500+2T>G
NM_194322.3:c.2430+2T>G NP_919303.1:n.2430+2T>G
NM_194323.3:c.2199+2T>G MANE Plus Clinical NP_919304.1:n.2199+2T>G
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