Canonical Allele Identifier: CA346128068

Gene: OTOF

Linked Data

• gnomAD v4: 2-26460195-T-A
• MyVariant Identifiers: chr2:g.26683063T>A (hg19) ; chr2:g.26460195T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460195T>A , CM000664.2:g.26460195T>A	GRCh38
NC_000002.11:g.26683063T>A , CM000664.1:g.26683063T>A	GRCh37
NC_000002.10:g.26536567T>A	NCBI36
NG_009937.1:g.103504A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.5824A>T MANE Select	ENSP00000272371.2:p.Thr1942Ser
ENST00000339598.8:c.3512+452A>T MANE Plus Clinical	ENSP00000344521.3:n.3512+452A>T
ENST00000402415.8:c.3583A>T	ENSP00000383906.4:p.Thr1195Ser
ENST00000272371.6:c.5824A>T	ENSP00000272371.2:p.Thr1942Ser
ENST00000338581.10:c.3523A>T	ENSP00000345137.6:p.Thr1175Ser
ENST00000339598.7:c.3512+452A>T	ENSP00000344521.3:n.3512+452A>T
ENST00000402415.7:c.3754A>T	ENSP00000383906.3:p.Thr1252Ser
ENST00000403946.7:c.5813+452A>T	ENSP00000385255.3:n.5813+452A>T
NM_001287489.1:c.5813+452A>T	NP_001274418.1:n.5813+452A>T
NM_004802.3:c.3523A>T	NP_004793.2:p.Thr1175Ser
NM_194248.2:c.5824A>T	NP_919224.1:p.Thr1942Ser
NM_194322.2:c.3754A>T	NP_919303.1:p.Thr1252Ser
NM_194323.2:c.3512+452A>T	NP_919304.1:n.3512+452A>T
XM_005264644.2:c.5798+452A>T	XP_005264701.1:n.5798+452A>T
XM_011533185.1:c.5858+452A>T	XP_011531487.1:n.5858+452A>T
XM_017005338.1:c.5764A>T	XP_016860827.1:p.Thr1922Ser
NM_001287489.2:c.5813+452A>T	NP_001274418.1:n.5813+452A>T
NM_004802.4:c.3523A>T	NP_004793.2:p.Thr1175Ser
NM_194248.3:c.5824A>T MANE Select	NP_919224.1:p.Thr1942Ser
NM_194322.3:c.3754A>T	NP_919303.1:p.Thr1252Ser
NM_194323.3:c.3512+452A>T MANE Plus Clinical	NP_919304.1:n.3512+452A>T