Canonical Allele Identifier: CA44401598

Gene: OTOF

Linked Data

• dbSNP Id: rs80356585
• gnomAD v2: 2-26705384-G-A
• gnomAD v3: 2-26482516-G-A
• gnomAD v4: 2-26482516-G-A
• MyVariant Identifiers: chr2:g.26705384G>A (hg19) ; chr2:g.26482516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482516G>A , CM000664.2:g.26482516G>A	GRCh38
NC_000002.11:g.26705384G>A , CM000664.1:g.26705384G>A	GRCh37
NC_000002.10:g.26558888G>A	NCBI36
NG_009937.1:g.81183C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.1469C>T MANE Select	ENSP00000272371.2:p.Pro490Leu
ENST00000272371.6:c.1469C>T	ENSP00000272371.2:p.Pro490Leu
ENST00000403946.7:c.1469C>T	ENSP00000385255.3:p.Pro490Leu
NM_001287489.1:c.1469C>T	NP_001274418.1:p.Pro490Leu
NM_194248.2:c.1469C>T	NP_919224.1:p.Pro490Leu
XM_005264644.2:c.1514C>T	XP_005264701.1:p.Pro505Leu
XM_011533185.1:c.1514C>T	XP_011531487.1:p.Pro505Leu
XM_017005338.1:c.1469C>T	XP_016860827.1:p.Pro490Leu
NM_001287489.2:c.1469C>T	NP_001274418.1:p.Pro490Leu
NM_194248.3:c.1469C>T MANE Select	NP_919224.1:p.Pro490Leu