Canonical Allele Identifier: CA44394454

Gene: OTOF

Linked Data

• dbSNP Id: rs1015247701
• gnomAD v3: 2-26470495-A-G
• gnomAD v4: 2-26470495-A-G
• MyVariant Identifiers: chr2:g.26693363A>G (hg19) ; chr2:g.26470495A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26470495A>G , CM000664.2:g.26470495A>G	GRCh38
NC_000002.11:g.26693363A>G , CM000664.1:g.26693363A>G	GRCh37
NC_000002.10:g.26546867A>G	NCBI36
NG_009937.1:g.93204T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.4023+98T>C MANE Select	ENSP00000272371.2:n.4023+98T>C
ENST00000339598.8:c.1722+98T>C MANE Plus Clinical	ENSP00000344521.3:n.1722+98T>C
ENST00000402415.8:c.1782+98T>C	ENSP00000383906.4:n.1782+98T>C
ENST00000272371.6:c.4023+98T>C	ENSP00000272371.2:n.4023+98T>C
ENST00000338581.10:c.1722+98T>C	ENSP00000345137.6:n.1722+98T>C
ENST00000339598.7:c.1722+98T>C	ENSP00000344521.3:n.1722+98T>C
ENST00000402415.7:c.1953+98T>C	ENSP00000383906.3:n.1953+98T>C
ENST00000403946.7:c.4023+98T>C	ENSP00000385255.3:n.4023+98T>C
NM_001287489.1:c.4023+98T>C	NP_001274418.1:n.4023+98T>C
NM_004802.3:c.1722+98T>C	NP_004793.2:n.1722+98T>C
NM_194248.2:c.4023+98T>C	NP_919224.1:n.4023+98T>C
NM_194322.2:c.1953+98T>C	NP_919303.1:n.1953+98T>C
NM_194323.2:c.1722+98T>C	NP_919304.1:n.1722+98T>C
XM_005264644.2:c.4008+98T>C	XP_005264701.1:n.4008+98T>C
XM_011533185.1:c.4068+98T>C	XP_011531487.1:n.4068+98T>C
XM_017005338.1:c.3963+98T>C	XP_016860827.1:n.3963+98T>C
NM_001287489.2:c.4023+98T>C	NP_001274418.1:n.4023+98T>C
NM_004802.4:c.1722+98T>C	NP_004793.2:n.1722+98T>C
NM_194248.3:c.4023+98T>C MANE Select	NP_919224.1:n.4023+98T>C
NM_194322.3:c.1953+98T>C	NP_919303.1:n.1953+98T>C
NM_194323.3:c.1722+98T>C MANE Plus Clinical	NP_919304.1:n.1722+98T>C