Canonical Allele Identifier: CA1563218

Gene: OTOF

Linked Data

• ClinVar Variation Id: 1510047
• ClinVar RCV Id: RCV002011470
• dbSNP Id: rs367581711
• ExAC: 2:26690005 C / T
• MyVariant Identifiers: chr2:g.26690005C>T (hg19) ; chr2:g.26467137C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467137C>T , CM000664.2:g.26467137C>T	GRCh38
NC_000002.11:g.26690005C>T , CM000664.1:g.26690005C>T	GRCh37
NC_000002.10:g.26543509C>T	NCBI36
NG_009937.1:g.96562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4324G>A MANE Select	ENSP00000272371.2:p.Gly1442Ser
ENST00000339598.8:c.2023G>A MANE Plus Clinical	ENSP00000344521.3:p.Gly675Ser
ENST00000402415.8:c.2083G>A	ENSP00000383906.4:p.Gly695Ser
ENST00000272371.6:c.4324G>A	ENSP00000272371.2:p.Gly1442Ser
ENST00000338581.10:c.2023G>A	ENSP00000345137.6:p.Gly675Ser
ENST00000339598.7:c.2023G>A	ENSP00000344521.3:p.Gly675Ser
ENST00000402415.7:c.2254G>A	ENSP00000383906.3:p.Gly752Ser
ENST00000403946.7:c.4324G>A	ENSP00000385255.3:p.Gly1442Ser
NM_001287489.1:c.4324G>A	NP_001274418.1:p.Gly1442Ser
NM_004802.3:c.2023G>A	NP_004793.2:p.Gly675Ser
NM_194248.2:c.4324G>A	NP_919224.1:p.Gly1442Ser
NM_194322.2:c.2254G>A	NP_919303.1:p.Gly752Ser
NM_194323.2:c.2023G>A	NP_919304.1:p.Gly675Ser
XM_005264644.2:c.4309G>A	XP_005264701.1:p.Gly1437Ser
XM_011533185.1:c.4369G>A	XP_011531487.1:p.Gly1457Ser
XM_017005338.1:c.4264G>A	XP_016860827.1:p.Gly1422Ser
NM_001287489.2:c.4324G>A	NP_001274418.1:p.Gly1442Ser
NM_004802.4:c.2023G>A	NP_004793.2:p.Gly675Ser
NM_194248.3:c.4324G>A MANE Select	NP_919224.1:p.Gly1442Ser
NM_194322.3:c.2254G>A	NP_919303.1:p.Gly752Ser
NM_194323.3:c.2023G>A MANE Plus Clinical	NP_919304.1:p.Gly675Ser