Canonical Allele Identifier: CA346099817

Gene: OTOF

Linked Data

• dbSNP Id: rs1412454980
• gnomAD v3: 2-26470604-T-G
• gnomAD v4: 2-26470604-T-G
• MyVariant Identifiers: chr2:g.26693472T>G (hg19) ; chr2:g.26470604T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26470604T>G , CM000664.2:g.26470604T>G	GRCh38
NC_000002.11:g.26693472T>G , CM000664.1:g.26693472T>G	GRCh37
NC_000002.10:g.26546976T>G	NCBI36
NG_009937.1:g.93095A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.4012A>C MANE Select	ENSP00000272371.2:p.Thr1338Pro
ENST00000339598.8:c.1711A>C MANE Plus Clinical	ENSP00000344521.3:p.Thr571Pro
ENST00000402415.8:c.1771A>C	ENSP00000383906.4:p.Thr591Pro
ENST00000272371.6:c.4012A>C	ENSP00000272371.2:p.Thr1338Pro
ENST00000338581.10:c.1711A>C	ENSP00000345137.6:p.Thr571Pro
ENST00000339598.7:c.1711A>C	ENSP00000344521.3:p.Thr571Pro
ENST00000402415.7:c.1942A>C	ENSP00000383906.3:p.Thr648Pro
ENST00000403946.7:c.4012A>C	ENSP00000385255.3:p.Thr1338Pro
NM_001287489.1:c.4012A>C	NP_001274418.1:p.Thr1338Pro
NM_004802.3:c.1711A>C	NP_004793.2:p.Thr571Pro
NM_194248.2:c.4012A>C	NP_919224.1:p.Thr1338Pro
NM_194322.2:c.1942A>C	NP_919303.1:p.Thr648Pro
NM_194323.2:c.1711A>C	NP_919304.1:p.Thr571Pro
XM_005264644.2:c.3997A>C	XP_005264701.1:p.Thr1333Pro
XM_011533185.1:c.4057A>C	XP_011531487.1:p.Thr1353Pro
XM_017005338.1:c.3952A>C	XP_016860827.1:p.Thr1318Pro
NM_001287489.2:c.4012A>C	NP_001274418.1:p.Thr1338Pro
NM_004802.4:c.1711A>C	NP_004793.2:p.Thr571Pro
NM_194248.3:c.4012A>C MANE Select	NP_919224.1:p.Thr1338Pro
NM_194322.3:c.1942A>C	NP_919303.1:p.Thr648Pro
NM_194323.3:c.1711A>C MANE Plus Clinical	NP_919304.1:p.Thr571Pro