Canonical Allele Identifier: CA346125230

Gene: OTOF

Linked Data

• MyVariant Identifiers: chr2:g.26680969A>C (hg19) ; chr2:g.26458101A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26458101A>C , CM000664.2:g.26458101A>C	GRCh38
NC_000002.11:g.26680969A>C , CM000664.1:g.26680969A>C	GRCh37
NC_000002.10:g.26534473A>C	NCBI36
NG_009937.1:g.105598T>G
NG_042824.1:g.61190A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.*137T>G MANE Select	ENSP00000272371.2:n.*137T>G
ENST00000339598.8:c.3632T>G MANE Plus Clinical	ENSP00000344521.3:p.Met1211Arg
ENST00000402415.8:c.*137T>G	ENSP00000383906.4:n.*137T>G
ENST00000272371.6:c.*137T>G	ENSP00000272371.2:n.*137T>G
ENST00000338581.10:c.*137T>G	ENSP00000345137.6:n.*137T>G
ENST00000339598.7:c.3632T>G	ENSP00000344521.3:p.Met1211Arg
ENST00000402415.7:c.*137T>G	ENSP00000383906.3:n.*137T>G
ENST00000403946.7:c.5933T>G	ENSP00000385255.3:p.Met1978Arg
NM_001287489.1:c.5933T>G	NP_001274418.1:p.Met1978Arg
NM_004802.3:c.*137T>G	NP_004793.2:n.*137T>G
NM_194248.2:c.*137T>G	NP_919224.1:n.*137T>G
NM_194322.2:c.*137T>G	NP_919303.1:n.*137T>G
NM_194323.2:c.3632T>G	NP_919304.1:p.Met1211Arg
XM_005264644.2:c.5918T>G	XP_005264701.1:p.Met1973Arg
XM_011533185.1:c.5978T>G	XP_011531487.1:p.Met1993Arg
NM_001287489.2:c.5933T>G	NP_001274418.1:p.Met1978Arg
NM_004802.4:c.*137T>G	NP_004793.2:n.*137T>G
NM_194248.3:c.*137T>G MANE Select	NP_919224.1:n.*137T>G
NM_194322.3:c.*137T>G	NP_919303.1:n.*137T>G
NM_194323.3:c.3632T>G MANE Plus Clinical	NP_919304.1:p.Met1211Arg