Canonical Allele Identifier: CA1563175
Community Standard Title: NM_194248.3(OTOF):c.4408C>T (p.Arg1470Trp)
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26466806G>A , CM000664.2:g.26466806G>A GRCh38
NC_000002.11:g.26689674G>A , CM000664.1:g.26689674G>A GRCh37
NC_000002.10:g.26543178G>A NCBI36
NG_009937.1:g.96893C>T

Transcript Alleles

HGVS Amino-acid Change
NM_194248.3:c.4408C>T MANE Select NP_919224.1:p.Arg1470Trp
ENST00000272371.7:c.4408C>T MANE Select ENSP00000272371.2:p.Arg1470Trp
NM_194323.3:c.2107C>T MANE Plus Clinical NP_919304.1:p.Arg703Trp
ENST00000339598.8:c.2107C>T MANE Plus Clinical ENSP00000344521.3:p.Arg703Trp
NM_001287489.1:c.4408C>T NP_001274418.1:p.Arg1470Trp
NM_001287489.2:c.4408C>T NP_001274418.1:p.Arg1470Trp
NM_004802.3:c.2107C>T NP_004793.2:p.Arg703Trp
NM_004802.4:c.2107C>T NP_004793.2:p.Arg703Trp
NM_194248.2:c.4408C>T NP_919224.1:p.Arg1470Trp
NM_194322.2:c.2338C>T NP_919303.1:p.Arg780Trp
NM_194322.3:c.2338C>T NP_919303.1:p.Arg780Trp
NM_194323.2:c.2107C>T NP_919304.1:p.Arg703Trp
ENST00000272371.6:c.4408C>T ENSP00000272371.2:p.Arg1470Trp
ENST00000338581.10:c.2107C>T ENSP00000345137.6:p.Arg703Trp
ENST00000339598.7:c.2107C>T ENSP00000344521.3:p.Arg703Trp
ENST00000402415.7:c.2338C>T ENSP00000383906.3:p.Arg780Trp
ENST00000402415.8:c.2167C>T ENSP00000383906.4:p.Arg723Trp
ENST00000403946.7:c.4408C>T ENSP00000385255.3:p.Arg1470Trp
XM_005264644.2:c.4393C>T XP_005264701.1:p.Arg1465Trp
XM_011533185.1:c.4453C>T XP_011531487.1:p.Arg1485Trp
XM_017005338.1:c.4348C>T XP_016860827.1:p.Arg1450Trp