Canonical Allele Identifier: CA7952903
Community Standard Title: NM_144672.4(OTOA):c.2153A>G (p.Asp718Gly)
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21728377A>G , CM000678.2:g.21728377A>G GRCh38
NC_000016.9:g.21739698A>G , CM000678.1:g.21739698A>G GRCh37
NC_000016.8:g.21647199A>G NCBI36
NG_012973.1:g.54864A>G
NG_012973.2:g.69245A>G

Transcript Alleles

HGVS Amino-acid Change
NM_144672.4:c.2153A>G MANE Select NP_653273.3:p.Asp718Gly
ENST00000646100.2:c.2153A>G MANE Select ENSP00000496564.2:p.Asp718Gly
NM_001161683.1:c.1916A>G NP_001155155.1:p.Asp639Gly
NM_001161683.2:c.1916A>G NP_001155155.1:p.Asp639Gly
NM_144672.3:c.2153A>G NP_653273.3:p.Asp718Gly
NM_170664.2:c.1181A>G NP_733764.1:p.Asp394Gly
NM_170664.3:c.1181A>G NP_733764.1:p.Asp394Gly
ENST00000286149.8:c.2195A>G ENSP00000286149.4:p.Asp732Gly
ENST00000388956.8:c.1916A>G ENSP00000373608.4:p.Asp639Gly
ENST00000388957.3:c.1181A>G ENSP00000373609.3:p.Asp394Gly
ENST00000388958.7:c.2153A>G ENSP00000373610.3:p.Asp718Gly
ENST00000388958.8:c.2153A>G ENSP00000373610.3:p.Asp718Gly
ENST00000563871.5:n.1616A>G
ENST00000647277.1:c.*967A>G ENSP00000495594.1:n.*967A>G
XM_011545747.1:c.2153A>G XP_011544049.1:p.Asp718Gly
XM_011545748.1:c.1022A>G XP_011544050.1:p.Asp341Gly
XM_011545748.2:c.1022A>G XP_011544050.2:p.Asp341Gly
XM_017022951.1:c.419A>G XP_016878440.1:p.Asp140Gly
XR_002957775.1:n.1248A>G