Canonical Allele Identifier: CA7952341
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21687618G>C , CM000678.2:g.21687618G>C GRCh38
NC_000016.9:g.21698939G>C , CM000678.1:g.21698939G>C GRCh37
NC_000016.8:g.21606440G>C NCBI36
NG_012973.1:g.14105G>C
NG_012973.2:g.28486G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.605G>C ENSP00000373610.3:p.Arg202Pro
ENST00000646100.2:c.605G>C MANE Select ENSP00000496564.2:p.Arg202Pro
ENST00000647277.1:c.605G>C ENSP00000495594.1:p.Arg202Pro
ENST00000286149.8:c.605G>C ENSP00000286149.4:p.Arg202Pro
ENST00000388956.8:c.368G>C ENSP00000373608.4:p.Arg123Pro
ENST00000388958.7:c.605G>C ENSP00000373610.3:p.Arg202Pro
NM_001161683.1:c.368G>C NP_001155155.1:p.Arg123Pro
NM_144672.3:c.605G>C NP_653273.3:p.Arg202Pro
XM_011545747.1:c.605G>C XP_011544049.1:p.Arg202Pro
NM_144672.4:c.605G>C MANE Select NP_653273.3:p.Arg202Pro
NM_001161683.2:c.368G>C NP_001155155.1:p.Arg123Pro