Canonical Allele Identifier: CA2658238752
Gene: OTOF HGNC NCBI

Linked Data

gnomAD v4: 2-26482351-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26482351T>G , CM000664.2:g.26482351T>G GRCh38
NC_000002.11:g.26705219T>G , CM000664.1:g.26705219T>G GRCh37
NC_000002.10:g.26558723T>G NCBI36
NG_009937.1:g.81348A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.1579+55A>C MANE Select ENSP00000272371.2:n.1579+55A>C
ENST00000272371.6:c.1579+55A>C ENSP00000272371.2:n.1579+55A>C
ENST00000403946.7:c.1579+55A>C ENSP00000385255.3:n.1579+55A>C
NM_001287489.1:c.1579+55A>C NP_001274418.1:n.1579+55A>C
NM_194248.2:c.1579+55A>C NP_919224.1:n.1579+55A>C
XM_005264644.2:c.1624+55A>C XP_005264701.1:n.1624+55A>C
XM_011533185.1:c.1624+55A>C XP_011531487.1:n.1624+55A>C
XM_017005338.1:c.1579+55A>C XP_016860827.1:n.1579+55A>C
NM_001287489.2:c.1579+55A>C NP_001274418.1:n.1579+55A>C
NM_194248.3:c.1579+55A>C MANE Select NP_919224.1:n.1579+55A>C