Canonical Allele Identifier: CA7952911
Community Standard Title: NM_144672.4(OTOA):c.2207G>A (p.Gly736Glu)
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21728431G>A , CM000678.2:g.21728431G>A GRCh38
NC_000016.9:g.21739752G>A , CM000678.1:g.21739752G>A GRCh37
NC_000016.8:g.21647253G>A NCBI36
NG_012973.1:g.54918G>A
NG_012973.2:g.69299G>A

Transcript Alleles

HGVS Amino-acid Change
NM_144672.4:c.2207G>A MANE Select NP_653273.3:p.Gly736Glu
ENST00000646100.2:c.2207G>A MANE Select ENSP00000496564.2:p.Gly736Glu
NM_001161683.1:c.1970G>A NP_001155155.1:p.Gly657Glu
NM_001161683.2:c.1970G>A NP_001155155.1:p.Gly657Glu
NM_144672.3:c.2207G>A NP_653273.3:p.Gly736Glu
NM_170664.2:c.1235G>A NP_733764.1:p.Gly412Glu
NM_170664.3:c.1235G>A NP_733764.1:p.Gly412Glu
ENST00000286149.8:c.2249G>A ENSP00000286149.4:p.Gly750Glu
ENST00000388956.8:c.1970G>A ENSP00000373608.4:p.Gly657Glu
ENST00000388957.3:c.1235G>A ENSP00000373609.3:p.Gly412Glu
ENST00000388958.7:c.2207G>A ENSP00000373610.3:p.Gly736Glu
ENST00000388958.8:c.2207G>A ENSP00000373610.3:p.Gly736Glu
ENST00000563871.5:n.1670G>A
ENST00000647277.1:c.*1021G>A ENSP00000495594.1:n.*1021G>A
XM_011545747.1:c.2207G>A XP_011544049.1:p.Gly736Glu
XM_011545748.1:c.1076G>A XP_011544050.1:p.Gly359Glu
XM_011545748.2:c.1076G>A XP_011544050.2:p.Gly359Glu
XM_017022951.1:c.473G>A XP_016878440.1:p.Gly158Glu
XR_002957775.1:n.1302G>A