Canonical Allele Identifier: CA2612688555
Gene: OTOG HGNC NCBI

Linked Data

gnomAD v4: 11-17632229-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17632229G>T , CM000673.2:g.17632229G>T GRCh38
NC_000011.9:g.17653776G>T , CM000673.1:g.17653776G>T GRCh37
NC_000011.8:g.17610352G>T NCBI36
NG_033191.1:g.89857G>T
NG_033191.2:g.89857G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.7108+3G>T ENSP00000382323.2:n.7108+3G>T
ENST00000399397.6:c.7072+3G>T MANE Select ENSP00000382329.2:n.7072+3G>T
ENST00000342528.2:c.4126+3G>T ENSP00000341666.2:n.4126+3G>T
ENST00000399391.6:c.7108+3G>T ENSP00000382323.2:n.7108+3G>T
ENST00000399397.5:c.7072+3G>T ENSP00000382329.2:n.7072+3G>T
NM_001277269.1:c.7108+3G>T NP_001264198.1:n.7108+3G>T
NM_001292063.1:c.7072+3G>T NP_001278992.1:n.7072+3G>T
NM_001277269.2:c.7108+3G>T NP_001264198.1:n.7108+3G>T
NM_001292063.2:c.7072+3G>T MANE Select NP_001278992.1:n.7072+3G>T
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