Canonical Allele Identifier: CA425206547

Gene: OTOF

Linked Data

• gnomAD v4: 2-26460111-A-G
• MyVariant Identifiers: chr2:g.26682979A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460111A>G , CM000664.2:g.26460111A>G	GRCh38
NC_000002.11:g.26682979A>G , CM000664.1:g.26682979A>G	GRCh37
NC_000002.10:g.26536483A>G	NCBI36
NG_009937.1:g.103588T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5908T>C MANE Select	ENSP00000272371.2:p.Leu1970=
ENST00000339598.8:c.3512+536T>C MANE Plus Clinical	ENSP00000344521.3:n.3512+536T>C
ENST00000402415.8:c.3667T>C	ENSP00000383906.4:p.Leu1223=
ENST00000272371.6:c.5908T>C	ENSP00000272371.2:p.Leu1970=
ENST00000338581.10:c.3607T>C	ENSP00000345137.6:p.Leu1203=
ENST00000339598.7:c.3512+536T>C	ENSP00000344521.3:n.3512+536T>C
ENST00000402415.7:c.3838T>C	ENSP00000383906.3:p.Leu1280=
ENST00000403946.7:c.5813+536T>C	ENSP00000385255.3:n.5813+536T>C
NM_001287489.1:c.5813+536T>C	NP_001274418.1:n.5813+536T>C
NM_004802.3:c.3607T>C	NP_004793.2:p.Leu1203=
NM_194248.2:c.5908T>C	NP_919224.1:p.Leu1970=
NM_194322.2:c.3838T>C	NP_919303.1:p.Leu1280=
NM_194323.2:c.3512+536T>C	NP_919304.1:n.3512+536T>C
XM_005264644.2:c.5798+536T>C	XP_005264701.1:n.5798+536T>C
XM_011533185.1:c.5858+536T>C	XP_011531487.1:n.5858+536T>C
XM_017005338.1:c.5848T>C	XP_016860827.1:p.Leu1950=
NM_001287489.2:c.5813+536T>C	NP_001274418.1:n.5813+536T>C
NM_004802.4:c.3607T>C	NP_004793.2:p.Leu1203=
NM_194248.3:c.5908T>C MANE Select	NP_919224.1:p.Leu1970=
NM_194322.3:c.3838T>C	NP_919303.1:p.Leu1280=
NM_194323.3:c.3512+536T>C MANE Plus Clinical	NP_919304.1:n.3512+536T>C