Canonical Allele Identifier: CA346131736
Gene: OTOF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26461900C>T , CM000664.2:g.26461900C>T GRCh38
NC_000002.11:g.26684768C>T , CM000664.1:g.26684768C>T GRCh37
NC_000002.10:g.26538272C>T NCBI36
NG_009937.1:g.101799G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.5329G>A MANE Select ENSP00000272371.2:p.Asp1777Asn
ENST00000339598.8:c.3028G>A MANE Plus Clinical ENSP00000344521.3:p.Asp1010Asn
ENST00000402415.8:c.3088G>A ENSP00000383906.4:p.Asp1030Asn
ENST00000272371.6:c.5329G>A ENSP00000272371.2:p.Asp1777Asn
ENST00000338581.10:c.3028G>A ENSP00000345137.6:p.Asp1010Asn
ENST00000339598.7:c.3028G>A ENSP00000344521.3:p.Asp1010Asn
ENST00000402415.7:c.3259G>A ENSP00000383906.3:p.Asp1087Asn
ENST00000403946.7:c.5329G>A ENSP00000385255.3:p.Asp1777Asn
NM_001287489.1:c.5329G>A NP_001274418.1:p.Asp1777Asn
NM_004802.3:c.3028G>A NP_004793.2:p.Asp1010Asn
NM_194248.2:c.5329G>A NP_919224.1:p.Asp1777Asn
NM_194322.2:c.3259G>A NP_919303.1:p.Asp1087Asn
NM_194323.2:c.3028G>A NP_919304.1:p.Asp1010Asn
XM_005264644.2:c.5314G>A XP_005264701.1:p.Asp1772Asn
XM_011533185.1:c.5374G>A XP_011531487.1:p.Asp1792Asn
XM_017005338.1:c.5269G>A XP_016860827.1:p.Asp1757Asn
NM_001287489.2:c.5329G>A NP_001274418.1:p.Asp1777Asn
NM_004802.4:c.3028G>A NP_004793.2:p.Asp1010Asn
NM_194248.3:c.5329G>A MANE Select NP_919224.1:p.Asp1777Asn
NM_194322.3:c.3259G>A NP_919303.1:p.Asp1087Asn
NM_194323.3:c.3028G>A MANE Plus Clinical NP_919304.1:p.Asp1010Asn