Canonical Allele Identifier: CA494117574
Gene: OTOA HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.21721343C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710022C>T , CM000678.2:g.21710022C>T GRCh38
NC_000016.9:g.21721343C>T , CM000678.1:g.21721343C>T GRCh37
NC_000016.8:g.21628844C>T NCBI36
NG_012973.1:g.36509C>T
NG_012973.2:g.50890C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1239C>T ENSP00000373610.3:p.Ala413=
ENST00000646100.2:c.1239C>T MANE Select ENSP00000496564.2:p.Ala413=
ENST00000647277.1:c.*53C>T ENSP00000495594.1:n.*53C>T
ENST00000286149.8:c.1281C>T ENSP00000286149.4:p.Ala427=
ENST00000388956.8:c.1002C>T ENSP00000373608.4:p.Ala334=
ENST00000388957.3:c.267C>T ENSP00000373609.3:p.Ala89=
ENST00000388958.7:c.1239C>T ENSP00000373610.3:p.Ala413=
ENST00000563871.5:n.459C>T
NM_001161683.1:c.1002C>T NP_001155155.1:p.Ala334=
NM_144672.3:c.1239C>T NP_653273.3:p.Ala413=
NM_170664.2:c.267C>T NP_733764.1:p.Ala89=
XM_011545747.1:c.1239C>T XP_011544049.1:p.Ala413=
XM_011545748.1:c.108C>T XP_011544050.1:p.Ala36=
NM_144672.4:c.1239C>T MANE Select NP_653273.3:p.Ala413=
XM_011545748.2:c.108C>T XP_011544050.2:p.Ala36=
XR_002957775.1:n.334C>T
NM_001161683.2:c.1002C>T NP_001155155.1:p.Ala334=
NM_170664.3:c.267C>T NP_733764.1:p.Ala89=