Canonical Allele Identifier: CA346123584

Gene: OTOF

Linked Data

• dbSNP Id: rs1231424441
• gnomAD v3: 2-26477661-C-G
• gnomAD v4: 2-26477661-C-G
• MyVariant Identifiers: chr2:g.26700529C>G (hg19) ; chr2:g.26477661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477661C>G , CM000664.2:g.26477661C>G	GRCh38
NC_000002.11:g.26700529C>G , CM000664.1:g.26700529C>G	GRCh37
NC_000002.10:g.26554033C>G	NCBI36
NG_009937.1:g.86038G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2303G>C MANE Select	ENSP00000272371.2:p.Ser768Thr
ENST00000339598.8:c.62G>C MANE Plus Clinical	ENSP00000344521.3:p.Ser21Thr
ENST00000402415.8:c.62G>C	ENSP00000383906.4:p.Ser21Thr
ENST00000272371.6:c.2303G>C	ENSP00000272371.2:p.Ser768Thr
ENST00000338581.10:c.62G>C	ENSP00000345137.6:p.Ser21Thr
ENST00000339598.7:c.62G>C	ENSP00000344521.3:p.Ser21Thr
ENST00000402415.7:c.233G>C	ENSP00000383906.3:p.Ser78Thr
ENST00000403946.7:c.2303G>C	ENSP00000385255.3:p.Ser768Thr
NM_001287489.1:c.2303G>C	NP_001274418.1:p.Ser768Thr
NM_004802.3:c.62G>C	NP_004793.2:p.Ser21Thr
NM_194248.2:c.2303G>C	NP_919224.1:p.Ser768Thr
NM_194322.2:c.233G>C	NP_919303.1:p.Ser78Thr
NM_194323.2:c.62G>C	NP_919304.1:p.Ser21Thr
XM_005264644.2:c.2348G>C	XP_005264701.1:p.Ser783Thr
XM_011533185.1:c.2348G>C	XP_011531487.1:p.Ser783Thr
XM_017005338.1:c.2303G>C	XP_016860827.1:p.Ser768Thr
NM_001287489.2:c.2303G>C	NP_001274418.1:p.Ser768Thr
NM_004802.4:c.62G>C	NP_004793.2:p.Ser21Thr
NM_194248.3:c.2303G>C MANE Select	NP_919224.1:p.Ser768Thr
NM_194322.3:c.233G>C	NP_919303.1:p.Ser78Thr
NM_194323.3:c.62G>C MANE Plus Clinical	NP_919304.1:p.Ser21Thr