Canonical Allele Identifier: CA1563337

Gene: OTOF

Linked Data

• dbSNP Id: rs759084466
• ExAC: 2:26693465 T / G
• gnomAD v2: 2-26693465-T-G
• gnomAD v4: 2-26470597-T-G
• MyVariant Identifiers: chr2:g.26693465T>G (hg19) ; chr2:g.26470597T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26470597T>G , CM000664.2:g.26470597T>G	GRCh38
NC_000002.11:g.26693465T>G , CM000664.1:g.26693465T>G	GRCh37
NC_000002.10:g.26546969T>G	NCBI36
NG_009937.1:g.93102A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.4019A>C MANE Select	ENSP00000272371.2:p.Lys1340Thr
ENST00000339598.8:c.1718A>C MANE Plus Clinical	ENSP00000344521.3:p.Lys573Thr
ENST00000402415.8:c.1778A>C	ENSP00000383906.4:p.Lys593Thr
ENST00000272371.6:c.4019A>C	ENSP00000272371.2:p.Lys1340Thr
ENST00000338581.10:c.1718A>C	ENSP00000345137.6:p.Lys573Thr
ENST00000339598.7:c.1718A>C	ENSP00000344521.3:p.Lys573Thr
ENST00000402415.7:c.1949A>C	ENSP00000383906.3:p.Lys650Thr
ENST00000403946.7:c.4019A>C	ENSP00000385255.3:p.Lys1340Thr
NM_001287489.1:c.4019A>C	NP_001274418.1:p.Lys1340Thr
NM_004802.3:c.1718A>C	NP_004793.2:p.Lys573Thr
NM_194248.2:c.4019A>C	NP_919224.1:p.Lys1340Thr
NM_194322.2:c.1949A>C	NP_919303.1:p.Lys650Thr
NM_194323.2:c.1718A>C	NP_919304.1:p.Lys573Thr
XM_005264644.2:c.4004A>C	XP_005264701.1:p.Lys1335Thr
XM_011533185.1:c.4064A>C	XP_011531487.1:p.Lys1355Thr
XM_017005338.1:c.3959A>C	XP_016860827.1:p.Lys1320Thr
NM_001287489.2:c.4019A>C	NP_001274418.1:p.Lys1340Thr
NM_004802.4:c.1718A>C	NP_004793.2:p.Lys573Thr
NM_194248.3:c.4019A>C MANE Select	NP_919224.1:p.Lys1340Thr
NM_194322.3:c.1949A>C	NP_919303.1:p.Lys650Thr
NM_194323.3:c.1718A>C MANE Plus Clinical	NP_919304.1:p.Lys573Thr