Canonical Allele Identifier: CA531761983

Gene: OTOF

Linked Data

• dbSNP Id: rs1183403832
• gnomAD v2: 2-26703591-G-A
• gnomAD v4: 2-26480723-G-A
• MyVariant Identifiers: chr2:g.26703591G>A (hg19) ; chr2:g.26480723G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26480723G>A , CM000664.2:g.26480723G>A	GRCh38
NC_000002.11:g.26703591G>A , CM000664.1:g.26703591G>A	GRCh37
NC_000002.10:g.26557095G>A	NCBI36
NG_009937.1:g.82976C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.1803+63C>T MANE Select	ENSP00000272371.2:n.1803+63C>T
ENST00000272371.6:c.1803+63C>T	ENSP00000272371.2:n.1803+63C>T
ENST00000403946.7:c.1803+63C>T	ENSP00000385255.3:n.1803+63C>T
NM_001287489.1:c.1803+63C>T	NP_001274418.1:n.1803+63C>T
NM_194248.2:c.1803+63C>T	NP_919224.1:n.1803+63C>T
XM_005264644.2:c.1848+63C>T	XP_005264701.1:n.1848+63C>T
XM_011533185.1:c.1848+63C>T	XP_011531487.1:n.1848+63C>T
XM_017005338.1:c.1803+63C>T	XP_016860827.1:n.1803+63C>T
NM_001287489.2:c.1803+63C>T	NP_001274418.1:n.1803+63C>T
NM_194248.3:c.1803+63C>T MANE Select	NP_919224.1:n.1803+63C>T