Canonical Allele Identifier: CA346135594
Gene: OTOF HGNC NCBI

Linked Data

dbSNP Id: rs1259277847
gnomAD v2: 2-26705385-G-C
gnomAD v3: 2-26482517-G-C
gnomAD v4: 2-26482517-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26482517G>C , CM000664.2:g.26482517G>C GRCh38
NC_000002.11:g.26705385G>C , CM000664.1:g.26705385G>C GRCh37
NC_000002.10:g.26558889G>C NCBI36
NG_009937.1:g.81182C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1468C>G MANE Select ENSP00000272371.2:p.Pro490Ala
ENST00000272371.6:c.1468C>G ENSP00000272371.2:p.Pro490Ala
ENST00000403946.7:c.1468C>G ENSP00000385255.3:p.Pro490Ala
NM_001287489.1:c.1468C>G NP_001274418.1:p.Pro490Ala
NM_194248.2:c.1468C>G NP_919224.1:p.Pro490Ala
XM_005264644.2:c.1513C>G XP_005264701.1:p.Pro505Ala
XM_011533185.1:c.1513C>G XP_011531487.1:p.Pro505Ala
XM_017005338.1:c.1468C>G XP_016860827.1:p.Pro490Ala
NM_001287489.2:c.1468C>G NP_001274418.1:p.Pro490Ala
NM_194248.3:c.1468C>G MANE Select NP_919224.1:p.Pro490Ala