Canonical Allele Identifier: CA1564367
Gene: OTOF HGNC NCBI

Linked Data

dbSNP Id: rs781738628
gnomAD v2: 2-26707394-T-C
gnomAD v4: 2-26484526-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26484526T>C , CM000664.2:g.26484526T>C GRCh38
NC_000002.11:g.26707394T>C , CM000664.1:g.26707394T>C GRCh37
NC_000002.10:g.26560898T>C NCBI36
NG_009937.1:g.79173A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1153A>G MANE Select ENSP00000272371.2:p.Asn385Asp
ENST00000272371.6:c.1153A>G ENSP00000272371.2:p.Asn385Asp
ENST00000403946.7:c.1153A>G ENSP00000385255.3:p.Asn385Asp
NM_001287489.1:c.1153A>G NP_001274418.1:p.Asn385Asp
NM_194248.2:c.1153A>G NP_919224.1:p.Asn385Asp
XM_005264644.2:c.1198A>G XP_005264701.1:p.Asn400Asp
XM_011533185.1:c.1198A>G XP_011531487.1:p.Asn400Asp
XM_017005338.1:c.1153A>G XP_016860827.1:p.Asn385Asp
NM_001287489.2:c.1153A>G NP_001274418.1:p.Asn385Asp
NM_194248.3:c.1153A>G MANE Select NP_919224.1:p.Asn385Asp