Canonical Allele Identifier: CA1564149

Gene: OTOF

Linked Data

• ClinVar Variation Id: 2885861
• ClinVar RCV Id: RCV003719624
• dbSNP Id: rs746095139
• ExAC: 2:26703090 G / T
• gnomAD v2: 2-26703090-G-T
• gnomAD v3: 2-26480222-G-T
• gnomAD v4: 2-26480222-G-T
• MyVariant Identifiers: chr2:g.26703090G>T (hg19) ; chr2:g.26480222G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26480222G>T , CM000664.2:g.26480222G>T	GRCh38
NC_000002.11:g.26703090G>T , CM000664.1:g.26703090G>T	GRCh37
NC_000002.10:g.26556594G>T	NCBI36
NG_009937.1:g.83477C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1893C>A MANE Select	ENSP00000272371.2:p.Ile631=
ENST00000272371.6:c.1893C>A	ENSP00000272371.2:p.Ile631=
ENST00000403946.7:c.1893C>A	ENSP00000385255.3:p.Ile631=
NM_001287489.1:c.1893C>A	NP_001274418.1:p.Ile631=
NM_194248.2:c.1893C>A	NP_919224.1:p.Ile631=
XM_005264644.2:c.1938C>A	XP_005264701.1:p.Ile646=
XM_011533185.1:c.1938C>A	XP_011531487.1:p.Ile646=
XM_017005338.1:c.1893C>A	XP_016860827.1:p.Ile631=
NM_001287489.2:c.1893C>A	NP_001274418.1:p.Ile631=
NM_194248.3:c.1893C>A MANE Select	NP_919224.1:p.Ile631=