Canonical Allele Identifier: CA395062662
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710054C>G , CM000678.2:g.21710054C>G GRCh38
NC_000016.9:g.21721375C>G , CM000678.1:g.21721375C>G GRCh37
NC_000016.8:g.21628876C>G NCBI36
NG_012973.1:g.36541C>G
NG_012973.2:g.50922C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1271C>G ENSP00000373610.3:p.Ala424Gly
ENST00000646100.2:c.1271C>G MANE Select ENSP00000496564.2:p.Ala424Gly
ENST00000647277.1:c.*85C>G ENSP00000495594.1:n.*85C>G
ENST00000286149.8:c.1313C>G ENSP00000286149.4:p.Ala438Gly
ENST00000388956.8:c.1034C>G ENSP00000373608.4:p.Ala345Gly
ENST00000388957.3:c.299C>G ENSP00000373609.3:p.Ala100Gly
ENST00000388958.7:c.1271C>G ENSP00000373610.3:p.Ala424Gly
ENST00000563871.5:n.491C>G
NM_001161683.1:c.1034C>G NP_001155155.1:p.Ala345Gly
NM_144672.3:c.1271C>G NP_653273.3:p.Ala424Gly
NM_170664.2:c.299C>G NP_733764.1:p.Ala100Gly
XM_011545747.1:c.1271C>G XP_011544049.1:p.Ala424Gly
XM_011545748.1:c.140C>G XP_011544050.1:p.Ala47Gly
NM_144672.4:c.1271C>G MANE Select NP_653273.3:p.Ala424Gly
XM_011545748.2:c.140C>G XP_011544050.2:p.Ala47Gly
XR_002957775.1:n.366C>G
NM_001161683.2:c.1034C>G NP_001155155.1:p.Ala345Gly
NM_170664.3:c.299C>G NP_733764.1:p.Ala100Gly