Canonical Allele Identifier: CA425205568

Gene: OTOF

Linked Data

• ClinVar Variation Id: 2823476
• ClinVar RCV Id: RCV003706706
• dbSNP Id: rs1325398888
• gnomAD v2: 2-26703171-T-A
• gnomAD v3: 2-26480303-T-A
• gnomAD v4: 2-26480303-T-A
• MyVariant Identifiers: chr2:g.26703171T>A (hg19) ; chr2:g.26480303T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26480303T>A , CM000664.2:g.26480303T>A	GRCh38
NC_000002.11:g.26703171T>A , CM000664.1:g.26703171T>A	GRCh37
NC_000002.10:g.26556675T>A	NCBI36
NG_009937.1:g.83396A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1812A>T MANE Select	ENSP00000272371.2:p.Ala604=
ENST00000272371.6:c.1812A>T	ENSP00000272371.2:p.Ala604=
ENST00000403946.7:c.1812A>T	ENSP00000385255.3:p.Ala604=
NM_001287489.1:c.1812A>T	NP_001274418.1:p.Ala604=
NM_194248.2:c.1812A>T	NP_919224.1:p.Ala604=
XM_005264644.2:c.1857A>T	XP_005264701.1:p.Ala619=
XM_011533185.1:c.1857A>T	XP_011531487.1:p.Ala619=
XM_017005338.1:c.1812A>T	XP_016860827.1:p.Ala604=
NM_001287489.2:c.1812A>T	NP_001274418.1:p.Ala604=
NM_194248.3:c.1812A>T MANE Select	NP_919224.1:p.Ala604=