Canonical Allele Identifier: CA346131735

Gene: OTOF

Linked Data

• MyVariant Identifiers: chr2:g.26684768C>G (hg19) ; chr2:g.26461900C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26461900C>G , CM000664.2:g.26461900C>G	GRCh38
NC_000002.11:g.26684768C>G , CM000664.1:g.26684768C>G	GRCh37
NC_000002.10:g.26538272C>G	NCBI36
NG_009937.1:g.101799G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5329G>C MANE Select	ENSP00000272371.2:p.Asp1777His
ENST00000339598.8:c.3028G>C MANE Plus Clinical	ENSP00000344521.3:p.Asp1010His
ENST00000402415.8:c.3088G>C	ENSP00000383906.4:p.Asp1030His
ENST00000272371.6:c.5329G>C	ENSP00000272371.2:p.Asp1777His
ENST00000338581.10:c.3028G>C	ENSP00000345137.6:p.Asp1010His
ENST00000339598.7:c.3028G>C	ENSP00000344521.3:p.Asp1010His
ENST00000402415.7:c.3259G>C	ENSP00000383906.3:p.Asp1087His
ENST00000403946.7:c.5329G>C	ENSP00000385255.3:p.Asp1777His
NM_001287489.1:c.5329G>C	NP_001274418.1:p.Asp1777His
NM_004802.3:c.3028G>C	NP_004793.2:p.Asp1010His
NM_194248.2:c.5329G>C	NP_919224.1:p.Asp1777His
NM_194322.2:c.3259G>C	NP_919303.1:p.Asp1087His
NM_194323.2:c.3028G>C	NP_919304.1:p.Asp1010His
XM_005264644.2:c.5314G>C	XP_005264701.1:p.Asp1772His
XM_011533185.1:c.5374G>C	XP_011531487.1:p.Asp1792His
XM_017005338.1:c.5269G>C	XP_016860827.1:p.Asp1757His
NM_001287489.2:c.5329G>C	NP_001274418.1:p.Asp1777His
NM_004802.4:c.3028G>C	NP_004793.2:p.Asp1010His
NM_194248.3:c.5329G>C MANE Select	NP_919224.1:p.Asp1777His
NM_194322.3:c.3259G>C	NP_919303.1:p.Asp1087His
NM_194323.3:c.3028G>C MANE Plus Clinical	NP_919304.1:p.Asp1010His