Canonical Allele Identifier: CA346133223

Gene: OTOF

Linked Data

• gnomAD v4: 2-26480884-G-C
• MyVariant Identifiers: chr2:g.26703752G>C (hg19) ; chr2:g.26480884G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26480884G>C , CM000664.2:g.26480884G>C	GRCh38
NC_000002.11:g.26703752G>C , CM000664.1:g.26703752G>C	GRCh37
NC_000002.10:g.26557256G>C	NCBI36
NG_009937.1:g.82815C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.1705C>G MANE Select	ENSP00000272371.2:p.Leu569Val
ENST00000272371.6:c.1705C>G	ENSP00000272371.2:p.Leu569Val
ENST00000403946.7:c.1705C>G	ENSP00000385255.3:p.Leu569Val
NM_001287489.1:c.1705C>G	NP_001274418.1:p.Leu569Val
NM_194248.2:c.1705C>G	NP_919224.1:p.Leu569Val
XM_005264644.2:c.1750C>G	XP_005264701.1:p.Leu584Val
XM_011533185.1:c.1750C>G	XP_011531487.1:p.Leu584Val
XM_017005338.1:c.1705C>G	XP_016860827.1:p.Leu569Val
NM_001287489.2:c.1705C>G	NP_001274418.1:p.Leu569Val
NM_194248.3:c.1705C>G MANE Select	NP_919224.1:p.Leu569Val