Canonical Allele Identifier: CA346137218

Gene: OTOF

Linked Data

• MyVariant Identifiers: chr2:g.26690253G>C (hg19) ; chr2:g.26467385G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467385G>C , CM000664.2:g.26467385G>C	GRCh38
NC_000002.11:g.26690253G>C , CM000664.1:g.26690253G>C	GRCh37
NC_000002.10:g.26543757G>C	NCBI36
NG_009937.1:g.96314C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4207C>G MANE Select	ENSP00000272371.2:p.Pro1403Ala
ENST00000339598.8:c.1906C>G MANE Plus Clinical	ENSP00000344521.3:p.Pro636Ala
ENST00000402415.8:c.1966C>G	ENSP00000383906.4:p.Pro656Ala
ENST00000272371.6:c.4207C>G	ENSP00000272371.2:p.Pro1403Ala
ENST00000338581.10:c.1906C>G	ENSP00000345137.6:p.Pro636Ala
ENST00000339598.7:c.1906C>G	ENSP00000344521.3:p.Pro636Ala
ENST00000402415.7:c.2137C>G	ENSP00000383906.3:p.Pro713Ala
ENST00000403946.7:c.4207C>G	ENSP00000385255.3:p.Pro1403Ala
NM_001287489.1:c.4207C>G	NP_001274418.1:p.Pro1403Ala
NM_004802.3:c.1906C>G	NP_004793.2:p.Pro636Ala
NM_194248.2:c.4207C>G	NP_919224.1:p.Pro1403Ala
NM_194322.2:c.2137C>G	NP_919303.1:p.Pro713Ala
NM_194323.2:c.1906C>G	NP_919304.1:p.Pro636Ala
XM_005264644.2:c.4192C>G	XP_005264701.1:p.Pro1398Ala
XM_011533185.1:c.4252C>G	XP_011531487.1:p.Pro1418Ala
XM_017005338.1:c.4147C>G	XP_016860827.1:p.Pro1383Ala
NM_001287489.2:c.4207C>G	NP_001274418.1:p.Pro1403Ala
NM_004802.4:c.1906C>G	NP_004793.2:p.Pro636Ala
NM_194248.3:c.4207C>G MANE Select	NP_919224.1:p.Pro1403Ala
NM_194322.3:c.2137C>G	NP_919303.1:p.Pro713Ala
NM_194323.3:c.1906C>G MANE Plus Clinical	NP_919304.1:p.Pro636Ala