Canonical Allele Identifier: CA395062051
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21728279G>C , CM000678.2:g.21728279G>C GRCh38
NC_000016.9:g.21739600G>C , CM000678.1:g.21739600G>C GRCh37
NC_000016.8:g.21647101G>C NCBI36
NG_012973.1:g.54766G>C
NG_012973.2:g.69147G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000388958.8:c.2055G>C ENSP00000373610.3:p.Met685Ile
ENST00000646100.2:c.2055G>C MANE Select ENSP00000496564.2:p.Met685Ile
ENST00000647277.1:c.*869G>C ENSP00000495594.1:n.*869G>C
ENST00000286149.8:c.2097G>C ENSP00000286149.4:p.Met699Ile
ENST00000388956.8:c.1818G>C ENSP00000373608.4:p.Met606Ile
ENST00000388957.3:c.1083G>C ENSP00000373609.3:p.Met361Ile
ENST00000388958.7:c.2055G>C ENSP00000373610.3:p.Met685Ile
ENST00000563871.5:n.1518G>C
NM_001161683.1:c.1818G>C NP_001155155.1:p.Met606Ile
NM_144672.3:c.2055G>C NP_653273.3:p.Met685Ile
NM_170664.2:c.1083G>C NP_733764.1:p.Met361Ile
XM_011545747.1:c.2055G>C XP_011544049.1:p.Met685Ile
XM_011545748.1:c.924G>C XP_011544050.1:p.Met308Ile
NM_144672.4:c.2055G>C MANE Select NP_653273.3:p.Met685Ile
XM_011545748.2:c.924G>C XP_011544050.2:p.Met308Ile
XM_017022951.1:c.321G>C XP_016878440.1:p.Met107Ile
XR_002957775.1:n.1150G>C
NM_001161683.2:c.1818G>C NP_001155155.1:p.Met606Ile
NM_170664.3:c.1083G>C NP_733764.1:p.Met361Ile