Canonical Allele Identifier: CA494117534
Gene: OTOA HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.21721289A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21709968A>C , CM000678.2:g.21709968A>C GRCh38
NC_000016.9:g.21721289A>C , CM000678.1:g.21721289A>C GRCh37
NC_000016.8:g.21628790A>C NCBI36
NG_012973.1:g.36455A>C
NG_012973.2:g.50836A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1185A>C ENSP00000373610.3:p.Val395=
ENST00000646100.2:c.1185A>C MANE Select ENSP00000496564.2:p.Val395=
ENST00000647277.1:c.1061A>C ENSP00000495594.1:p.Ter354Ser
ENST00000286149.8:c.1227A>C ENSP00000286149.4:p.Val409=
ENST00000388956.8:c.948A>C ENSP00000373608.4:p.Val316=
ENST00000388957.3:c.213A>C ENSP00000373609.3:p.Val71=
ENST00000388958.7:c.1185A>C ENSP00000373610.3:p.Val395=
ENST00000563871.5:n.405A>C
NM_001161683.1:c.948A>C NP_001155155.1:p.Val316=
NM_144672.3:c.1185A>C NP_653273.3:p.Val395=
NM_170664.2:c.213A>C NP_733764.1:p.Val71=
XM_011545747.1:c.1185A>C XP_011544049.1:p.Val395=
XM_011545748.1:c.54A>C XP_011544050.1:p.Val18=
NM_144672.4:c.1185A>C MANE Select NP_653273.3:p.Val395=
XM_011545748.2:c.54A>C XP_011544050.2:p.Val18=
XR_002957775.1:n.280A>C
NM_001161683.2:c.948A>C NP_001155155.1:p.Val316=
NM_170664.3:c.213A>C NP_733764.1:p.Val71=