Canonical Allele Identifier: CA3010936707
Community Standard Title: NM_194248.3(OTOF):c.4501-241A>T
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26466317T>A , CM000664.2:g.26466317T>A GRCh38
NC_000002.11:g.26689185T>A , CM000664.1:g.26689185T>A GRCh37
NC_000002.10:g.26542689T>A NCBI36
NG_009937.1:g.97382A>T

Transcript Alleles

HGVS Amino-acid Change
NM_194248.3:c.4501-241A>T MANE Select NP_919224.1:n.4501-241A>T
ENST00000272371.7:c.4501-241A>T MANE Select ENSP00000272371.2:n.4501-241A>T
NM_194323.3:c.2200-241A>T MANE Plus Clinical NP_919304.1:n.2200-241A>T
ENST00000339598.8:c.2200-241A>T MANE Plus Clinical ENSP00000344521.3:n.2200-241A>T
NM_001287489.1:c.4501-241A>T NP_001274418.1:n.4501-241A>T
NM_001287489.2:c.4501-241A>T NP_001274418.1:n.4501-241A>T
NM_004802.3:c.2200-241A>T NP_004793.2:n.2200-241A>T
NM_004802.4:c.2200-241A>T NP_004793.2:n.2200-241A>T
NM_194248.2:c.4501-241A>T NP_919224.1:n.4501-241A>T
NM_194322.2:c.2431-241A>T NP_919303.1:n.2431-241A>T
NM_194322.3:c.2431-241A>T NP_919303.1:n.2431-241A>T
NM_194323.2:c.2200-241A>T NP_919304.1:n.2200-241A>T
ENST00000272371.6:c.4501-241A>T ENSP00000272371.2:n.4501-241A>T
ENST00000338581.10:c.2200-241A>T ENSP00000345137.6:n.2200-241A>T
ENST00000339598.7:c.2200-241A>T ENSP00000344521.3:n.2200-241A>T
ENST00000402415.7:c.2431-241A>T ENSP00000383906.3:n.2431-241A>T
ENST00000402415.8:c.2260-241A>T ENSP00000383906.4:n.2260-241A>T
ENST00000403946.7:c.4501-241A>T ENSP00000385255.3:n.4501-241A>T
ENST00000464574.1:n.9A>T
XM_005264644.2:c.4486-241A>T XP_005264701.1:n.4486-241A>T
XM_011533185.1:c.4546-241A>T XP_011531487.1:n.4546-241A>T
XM_017005338.1:c.4441-241A>T XP_016860827.1:n.4441-241A>T