Canonical Allele Identifier: CA494117548
Gene: OTOA HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.21721308C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709987C>T , CM000678.2:g.21709987C>T GRCh38
NC_000016.9:g.21721308C>T , CM000678.1:g.21721308C>T GRCh37
NC_000016.8:g.21628809C>T NCBI36
NG_012973.1:g.36474C>T
NG_012973.2:g.50855C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1204C>T ENSP00000373610.3:p.Leu402=
ENST00000646100.2:c.1204C>T MANE Select ENSP00000496564.2:p.Leu402=
ENST00000647277.1:c.*18C>T ENSP00000495594.1:n.*18C>T
ENST00000286149.8:c.1246C>T ENSP00000286149.4:p.Leu416=
ENST00000388956.8:c.967C>T ENSP00000373608.4:p.Leu323=
ENST00000388957.3:c.232C>T ENSP00000373609.3:p.Leu78=
ENST00000388958.7:c.1204C>T ENSP00000373610.3:p.Leu402=
ENST00000563871.5:n.424C>T
NM_001161683.1:c.967C>T NP_001155155.1:p.Leu323=
NM_144672.3:c.1204C>T NP_653273.3:p.Leu402=
NM_170664.2:c.232C>T NP_733764.1:p.Leu78=
XM_011545747.1:c.1204C>T XP_011544049.1:p.Leu402=
XM_011545748.1:c.73C>T XP_011544050.1:p.Leu25=
NM_144672.4:c.1204C>T MANE Select NP_653273.3:p.Leu402=
XM_011545748.2:c.73C>T XP_011544050.2:p.Leu25=
XR_002957775.1:n.299C>T
NM_001161683.2:c.967C>T NP_001155155.1:p.Leu323=
NM_170664.3:c.232C>T NP_733764.1:p.Leu78=