Canonical Allele Identifier: CA279403723

Gene: OTOA

Linked Data

• dbSNP Id: rs727504599
• gnomAD v2: 16-21721276-C-G
• gnomAD v3: 16-21709955-C-G
• gnomAD v4: 16-21709955-C-G
• MyVariant Identifiers: chr16:g.21721276C>G (hg19) ; chr16:g.21709955C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21709955C>G , CM000678.2:g.21709955C>G	GRCh38
NC_000016.9:g.21721276C>G , CM000678.1:g.21721276C>G	GRCh37
NC_000016.8:g.21628777C>G	NCBI36
NG_012973.1:g.36442C>G
NG_012973.2:g.50823C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1172C>G	ENSP00000373610.3:p.Ser391Trp
ENST00000646100.2:c.1172C>G MANE Select	ENSP00000496564.2:p.Ser391Trp
ENST00000647277.1:c.1048C>G	ENSP00000495594.1:p.Arg350Gly
ENST00000286149.8:c.1214C>G	ENSP00000286149.4:p.Ser405Trp
ENST00000388956.8:c.935C>G	ENSP00000373608.4:p.Ser312Trp
ENST00000388957.3:c.200C>G	ENSP00000373609.3:p.Ser67Trp
ENST00000388958.7:c.1172C>G	ENSP00000373610.3:p.Ser391Trp
ENST00000563871.5:n.392C>G
NM_001161683.1:c.935C>G	NP_001155155.1:p.Ser312Trp
NM_144672.3:c.1172C>G	NP_653273.3:p.Ser391Trp
NM_170664.2:c.200C>G	NP_733764.1:p.Ser67Trp
XM_011545747.1:c.1172C>G	XP_011544049.1:p.Ser391Trp
XM_011545748.1:c.41C>G	XP_011544050.1:p.Ser14Trp
NM_144672.4:c.1172C>G MANE Select	NP_653273.3:p.Ser391Trp
XM_011545748.2:c.41C>G	XP_011544050.2:p.Ser14Trp
XR_002957775.1:n.267C>G
NM_001161683.2:c.935C>G	NP_001155155.1:p.Ser312Trp
NM_170664.3:c.200C>G	NP_733764.1:p.Ser67Trp