Canonical Allele Identifier: CA473305620

Gene: OTOG

Linked Data

• dbSNP Id: rs1284876856
• gnomAD v2: 11-17633861-A-T
• gnomAD v3: 11-17612314-A-T
• gnomAD v4: 11-17612314-A-T
• MyVariant Identifiers: chr11:g.17633861A>T (hg19) ; chr11:g.17612314A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612314A>T , CM000673.2:g.17612314A>T	GRCh38
NC_000011.9:g.17633861A>T , CM000673.1:g.17633861A>T	GRCh37
NC_000011.8:g.17590437A>T	NCBI36
NG_033191.1:g.69942A>T
NG_033191.2:g.69942A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6312A>T	ENSP00000382323.2:p.Pro2104=
ENST00000399397.6:c.6276A>T MANE Select	ENSP00000382329.2:p.Pro2092=
ENST00000342528.2:c.3330A>T	ENSP00000341666.2:p.Pro1110=
ENST00000399391.6:c.6312A>T	ENSP00000382323.2:p.Pro2104=
ENST00000399397.5:c.6276A>T	ENSP00000382329.2:p.Pro2092=
NM_001277269.1:c.6312A>T	NP_001264198.1:p.Pro2104=
NM_001292063.1:c.6276A>T	NP_001278992.1:p.Pro2092=
NM_001277269.2:c.6312A>T	NP_001264198.1:p.Pro2104=
NM_001292063.2:c.6276A>T MANE Select	NP_001278992.1:p.Pro2092=