Canonical Allele Identifier: CA346133748

Gene: OTOF

Linked Data

• MyVariant Identifiers: chr2:g.26686851T>G (hg19) ; chr2:g.26463983T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26463983T>G , CM000664.2:g.26463983T>G	GRCh38
NC_000002.11:g.26686851T>G , CM000664.1:g.26686851T>G	GRCh37
NC_000002.10:g.26540355T>G	NCBI36
NG_009937.1:g.99716A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.5084A>C MANE Select	ENSP00000272371.2:p.Asp1695Ala
ENST00000339598.8:c.2783A>C MANE Plus Clinical	ENSP00000344521.3:p.Asp928Ala
ENST00000402415.8:c.2843A>C	ENSP00000383906.4:p.Asp948Ala
ENST00000272371.6:c.5084A>C	ENSP00000272371.2:p.Asp1695Ala
ENST00000338581.10:c.2783A>C	ENSP00000345137.6:p.Asp928Ala
ENST00000339598.7:c.2783A>C	ENSP00000344521.3:p.Asp928Ala
ENST00000402415.7:c.3014A>C	ENSP00000383906.3:p.Asp1005Ala
ENST00000403946.7:c.5084A>C	ENSP00000385255.3:p.Asp1695Ala
ENST00000464574.1:n.833A>C
NM_001287489.1:c.5084A>C	NP_001274418.1:p.Asp1695Ala
NM_004802.3:c.2783A>C	NP_004793.2:p.Asp928Ala
NM_194248.2:c.5084A>C	NP_919224.1:p.Asp1695Ala
NM_194322.2:c.3014A>C	NP_919303.1:p.Asp1005Ala
NM_194323.2:c.2783A>C	NP_919304.1:p.Asp928Ala
XM_005264644.2:c.5069A>C	XP_005264701.1:p.Asp1690Ala
XM_011533185.1:c.5129A>C	XP_011531487.1:p.Asp1710Ala
XM_017005338.1:c.5024A>C	XP_016860827.1:p.Asp1675Ala
NM_001287489.2:c.5084A>C	NP_001274418.1:p.Asp1695Ala
NM_004802.4:c.2783A>C	NP_004793.2:p.Asp928Ala
NM_194248.3:c.5084A>C MANE Select	NP_919224.1:p.Asp1695Ala
NM_194322.3:c.3014A>C	NP_919303.1:p.Asp1005Ala
NM_194323.3:c.2783A>C MANE Plus Clinical	NP_919304.1:p.Asp928Ala