Canonical Allele Identifier: CA117973

Gene: OTOF

Linked Data

• ClinVar Variation Id: 6143
• ClinVar RCV Id: RCV000006517 ; RCV000021035 ; RCV000604852 ; RCV003555942
• dbSNP Id: rs80356586
• ExAC: 2:26705309 A / G
• gnomAD v2: 2-26705309-A-G
• gnomAD v3: 2-26482441-A-G
• gnomAD v4: 2-26482441-A-G
• MyVariant Identifiers: chr2:g.26705309A>G (hg19) ; chr2:g.26482441A>G (hg38)
• PubMed: PMID:9657592 ; PMID:12127154 ; PMID:16371502 ; PMID:20301429 ; PMID:27729456 ; PMID:27821677

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482441A>G , CM000664.2:g.26482441A>G	GRCh38
NC_000002.11:g.26705309A>G , CM000664.1:g.26705309A>G	GRCh37
NC_000002.10:g.26558813A>G	NCBI36
NG_009937.1:g.81258T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1544T>C MANE Select	ENSP00000272371.2:p.Ile515Thr
ENST00000272371.6:c.1544T>C	ENSP00000272371.2:p.Ile515Thr
ENST00000403946.7:c.1544T>C	ENSP00000385255.3:p.Ile515Thr
NM_001287489.1:c.1544T>C	NP_001274418.1:p.Ile515Thr
NM_194248.2:c.1544T>C	NP_919224.1:p.Ile515Thr
XM_005264644.2:c.1589T>C	XP_005264701.1:p.Ile530Thr
XM_011533185.1:c.1589T>C	XP_011531487.1:p.Ile530Thr
XM_017005338.1:c.1544T>C	XP_016860827.1:p.Ile515Thr
NM_001287489.2:c.1544T>C	NP_001274418.1:p.Ile515Thr
NM_194248.3:c.1544T>C MANE Select	NP_919224.1:p.Ile515Thr