Canonical Allele Identifier: CA379804376

Gene: OTOG

Linked Data

• MyVariant Identifiers: chr11:g.17634234G>T (hg19) ; chr11:g.17612687G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612687G>T , CM000673.2:g.17612687G>T	GRCh38
NC_000011.9:g.17634234G>T , CM000673.1:g.17634234G>T	GRCh37
NC_000011.8:g.17590810G>T	NCBI36
NG_033191.1:g.70315G>T
NG_033191.2:g.70315G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6396G>T	ENSP00000382323.2:p.Lys2132Asn
ENST00000399397.6:c.6360G>T MANE Select	ENSP00000382329.2:p.Lys2120Asn
ENST00000342528.2:c.3414G>T	ENSP00000341666.2:p.Lys1138Asn
ENST00000399391.6:c.6396G>T	ENSP00000382323.2:p.Lys2132Asn
ENST00000399397.5:c.6360G>T	ENSP00000382329.2:p.Lys2120Asn
NM_001277269.1:c.6396G>T	NP_001264198.1:p.Lys2132Asn
NM_001292063.1:c.6360G>T	NP_001278992.1:p.Lys2120Asn
NM_001277269.2:c.6396G>T	NP_001264198.1:p.Lys2132Asn
NM_001292063.2:c.6360G>T MANE Select	NP_001278992.1:p.Lys2120Asn