Canonical Allele Identifier: CA7952822

Gene: OTOA

Linked Data

• dbSNP Id: rs727503351
• ExAC: 16:21734299 C / T
• gnomAD v2: 16-21734299-C-T
• gnomAD v3: 16-21722978-C-T
• gnomAD v4: 16-21722978-C-T
• MyVariant Identifiers: chr16:g.21734299C>T (hg19) ; chr16:g.21722978C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21722978C>T , CM000678.2:g.21722978C>T	GRCh38
NC_000016.9:g.21734299C>T , CM000678.1:g.21734299C>T	GRCh37
NC_000016.8:g.21641800C>T	NCBI36
NG_012973.1:g.49465C>T
NG_012973.2:g.63846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1880C>T	ENSP00000373610.3:p.Pro627Leu
ENST00000646100.2:c.1880C>T MANE Select	ENSP00000496564.2:p.Pro627Leu
ENST00000647277.1:c.*694C>T	ENSP00000495594.1:n.*694C>T
ENST00000286149.8:c.1922C>T	ENSP00000286149.4:p.Pro641Leu
ENST00000388956.8:c.1643C>T	ENSP00000373608.4:p.Pro548Leu
ENST00000388957.3:c.908C>T	ENSP00000373609.3:p.Pro303Leu
ENST00000388958.7:c.1880C>T	ENSP00000373610.3:p.Pro627Leu
ENST00000563871.5:n.1295C>T
NM_001161683.1:c.1643C>T	NP_001155155.1:p.Pro548Leu
NM_144672.3:c.1880C>T	NP_653273.3:p.Pro627Leu
NM_170664.2:c.908C>T	NP_733764.1:p.Pro303Leu
XM_011545747.1:c.1880C>T	XP_011544049.1:p.Pro627Leu
XM_011545748.1:c.749C>T	XP_011544050.1:p.Pro250Leu
NM_144672.4:c.1880C>T MANE Select	NP_653273.3:p.Pro627Leu
XM_011545748.2:c.749C>T	XP_011544050.2:p.Pro250Leu
XM_017022951.1:c.146C>T	XP_016878440.1:p.Pro49Leu
XR_002957775.1:n.975C>T
NM_001161683.2:c.1643C>T	NP_001155155.1:p.Pro548Leu
NM_170664.3:c.908C>T	NP_733764.1:p.Pro303Leu