Canonical Allele Identifier: CA1564270

Gene: OTOF

Linked Data

• dbSNP Id: rs375680893
• ExAC: 2:26705428 C / G
• gnomAD v2: 2-26705428-C-G
• gnomAD v4: 2-26482560-C-G
• MyVariant Identifiers: chr2:g.26705428C>G (hg19) ; chr2:g.26482560C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482560C>G , CM000664.2:g.26482560C>G	GRCh38
NC_000002.11:g.26705428C>G , CM000664.1:g.26705428C>G	GRCh37
NC_000002.10:g.26558932C>G	NCBI36
NG_009937.1:g.81139G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1425G>C MANE Select	ENSP00000272371.2:p.Glu475Asp
ENST00000272371.6:c.1425G>C	ENSP00000272371.2:p.Glu475Asp
ENST00000403946.7:c.1425G>C	ENSP00000385255.3:p.Glu475Asp
NM_001287489.1:c.1425G>C	NP_001274418.1:p.Glu475Asp
NM_194248.2:c.1425G>C	NP_919224.1:p.Glu475Asp
XM_005264644.2:c.1470G>C	XP_005264701.1:p.Glu490Asp
XM_011533185.1:c.1470G>C	XP_011531487.1:p.Glu490Asp
XM_017005338.1:c.1425G>C	XP_016860827.1:p.Glu475Asp
NM_001287489.2:c.1425G>C	NP_001274418.1:p.Glu475Asp
NM_194248.3:c.1425G>C MANE Select	NP_919224.1:p.Glu475Asp