Canonical Allele Identifier: CA1564250

Gene: OTOF

Linked Data

• dbSNP Id: rs756070463
• ExAC: 2:26705316 G / T
• gnomAD v2: 2-26705316-G-T
• gnomAD v4: 2-26482448-G-T
• MyVariant Identifiers: chr2:g.26705316G>T (hg19) ; chr2:g.26482448G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482448G>T , CM000664.2:g.26482448G>T	GRCh38
NC_000002.11:g.26705316G>T , CM000664.1:g.26705316G>T	GRCh37
NC_000002.10:g.26558820G>T	NCBI36
NG_009937.1:g.81251C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1537C>A MANE Select	ENSP00000272371.2:p.His513Asn
ENST00000272371.6:c.1537C>A	ENSP00000272371.2:p.His513Asn
ENST00000403946.7:c.1537C>A	ENSP00000385255.3:p.His513Asn
NM_001287489.1:c.1537C>A	NP_001274418.1:p.His513Asn
NM_194248.2:c.1537C>A	NP_919224.1:p.His513Asn
XM_005264644.2:c.1582C>A	XP_005264701.1:p.His528Asn
XM_011533185.1:c.1582C>A	XP_011531487.1:p.His528Asn
XM_017005338.1:c.1537C>A	XP_016860827.1:p.His513Asn
NM_001287489.2:c.1537C>A	NP_001274418.1:p.His513Asn
NM_194248.3:c.1537C>A MANE Select	NP_919224.1:p.His513Asn