Canonical Allele Identifier: CA379812706

Gene: OTOG

Linked Data

• MyVariant Identifiers: chr11:g.17656457A>T (hg19) ; chr11:g.17634910A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17634910A>T , CM000673.2:g.17634910A>T	GRCh38
NC_000011.9:g.17656457A>T , CM000673.1:g.17656457A>T	GRCh37
NC_000011.8:g.17613033A>T	NCBI36
NG_033191.1:g.92538A>T
NG_033191.2:g.92538A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7583A>T	ENSP00000382323.2:p.His2528Leu
ENST00000399397.6:c.7547A>T MANE Select	ENSP00000382329.2:p.His2516Leu
ENST00000342528.2:c.4322-700A>T	ENSP00000341666.2:n.4322-700A>T
ENST00000399391.6:c.7583A>T	ENSP00000382323.2:p.His2528Leu
ENST00000399397.5:c.7547A>T	ENSP00000382329.2:p.His2516Leu
NM_001277269.1:c.7583A>T	NP_001264198.1:p.His2528Leu
NM_001292063.1:c.7547A>T	NP_001278992.1:p.His2516Leu
NM_001277269.2:c.7583A>T	NP_001264198.1:p.His2528Leu
NM_001292063.2:c.7547A>T MANE Select	NP_001278992.1:p.His2516Leu