Canonical Allele Identifier: CA7952575

Gene: OTOA

Linked Data

• ClinVar Variation Id: 1319143
• ClinVar RCV Id: RCV001868768
• dbSNP Id: rs764182550
• ExAC: 16:21721353 C / T
• gnomAD v2: 16-21721353-C-T
• gnomAD v3: 16-21710032-C-T
• gnomAD v4: 16-21710032-C-T
• MyVariant Identifiers: chr16:g.21721353C>T (hg19) ; chr16:g.21710032C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710032C>T , CM000678.2:g.21710032C>T	GRCh38
NC_000016.9:g.21721353C>T , CM000678.1:g.21721353C>T	GRCh37
NC_000016.8:g.21628854C>T	NCBI36
NG_012973.1:g.36519C>T
NG_012973.2:g.50900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1249C>T	ENSP00000373610.3:p.Leu417Phe
ENST00000646100.2:c.1249C>T MANE Select	ENSP00000496564.2:p.Leu417Phe
ENST00000647277.1:c.*63C>T	ENSP00000495594.1:n.*63C>T
ENST00000286149.8:c.1291C>T	ENSP00000286149.4:p.Leu431Phe
ENST00000388956.8:c.1012C>T	ENSP00000373608.4:p.Leu338Phe
ENST00000388957.3:c.277C>T	ENSP00000373609.3:p.Leu93Phe
ENST00000388958.7:c.1249C>T	ENSP00000373610.3:p.Leu417Phe
ENST00000563871.5:n.469C>T
NM_001161683.1:c.1012C>T	NP_001155155.1:p.Leu338Phe
NM_144672.3:c.1249C>T	NP_653273.3:p.Leu417Phe
NM_170664.2:c.277C>T	NP_733764.1:p.Leu93Phe
XM_011545747.1:c.1249C>T	XP_011544049.1:p.Leu417Phe
XM_011545748.1:c.118C>T	XP_011544050.1:p.Leu40Phe
NM_144672.4:c.1249C>T MANE Select	NP_653273.3:p.Leu417Phe
XM_011545748.2:c.118C>T	XP_011544050.2:p.Leu40Phe
XR_002957775.1:n.344C>T
NM_001161683.2:c.1012C>T	NP_001155155.1:p.Leu338Phe
NM_170664.3:c.277C>T	NP_733764.1:p.Leu93Phe