Canonical Allele Identifier: CA379811717
Gene: OTOG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553470A>C , CM000673.2:g.17553470A>C GRCh38
NC_000011.9:g.17575017A>C , CM000673.1:g.17575017A>C GRCh37
NC_000011.8:g.17531593A>C NCBI36
NG_033191.1:g.11098A>C
NG_033191.2:g.11098A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.527A>C ENSP00000382323.2:p.Tyr176Ser
ENST00000399397.6:c.491A>C MANE Select ENSP00000382329.2:p.Tyr164Ser
ENST00000399391.6:c.527A>C ENSP00000382323.2:p.Tyr176Ser
ENST00000399397.5:c.491A>C ENSP00000382329.2:p.Tyr164Ser
ENST00000498332.5:n.397A>C
NM_001277269.1:c.527A>C NP_001264198.1:p.Tyr176Ser
NM_001292063.1:c.491A>C NP_001278992.1:p.Tyr164Ser
NM_001277269.2:c.527A>C NP_001264198.1:p.Tyr176Ser
NM_001292063.2:c.491A>C MANE Select NP_001278992.1:p.Tyr164Ser