Canonical Allele Identifier: CA7952220

Gene: OTOA

Linked Data

• ClinVar Variation Id: 505255
• ClinVar RCV Id: RCV003767442
• dbSNP Id: rs776210902
• ExAC: 16:21693047 C / T
• gnomAD v2: 16-21693047-C-T
• gnomAD v3: 16-21681726-C-T
• gnomAD v4: 16-21681726-C-T
• MyVariant Identifiers: chr16:g.21693047C>T (hg19) ; chr16:g.21681726C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21681726C>T , CM000678.2:g.21681726C>T	GRCh38
NC_000016.9:g.21693047C>T , CM000678.1:g.21693047C>T	GRCh37
NC_000016.8:g.21600548C>T	NCBI36
NG_012973.1:g.8213C>T
NG_012973.2:g.22594C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000388958.8:c.180-12C>T	ENSP00000373610.3:n.180-12C>T
ENST00000646100.2:c.180-12C>T MANE Select	ENSP00000496564.2:n.180-12C>T
ENST00000647277.1:c.180-12C>T	ENSP00000495594.1:n.180-12C>T
ENST00000286149.8:c.180-12C>T	ENSP00000286149.4:n.180-12C>T
ENST00000388958.7:c.180-12C>T	ENSP00000373610.3:n.180-12C>T
NM_144672.3:c.180-12C>T	NP_653273.3:n.180-12C>T
XM_011545747.1:c.180-12C>T	XP_011544049.1:n.180-12C>T
NM_144672.4:c.180-12C>T MANE Select	NP_653273.3:n.180-12C>T