Canonical Allele Identifier: CA1562765
Community Standard Title: NM_194248.3(OTOF):c.5623G>A (p.Val1875Met)
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26460941C>T , CM000664.2:g.26460941C>T GRCh38
NC_000002.11:g.26683809C>T , CM000664.1:g.26683809C>T GRCh37
NC_000002.10:g.26537313C>T NCBI36
NG_009937.1:g.102758G>A

Transcript Alleles

HGVS Amino-acid Change
NM_194248.3:c.5623G>A MANE Select NP_919224.1:p.Val1875Met
ENST00000272371.7:c.5623G>A MANE Select ENSP00000272371.2:p.Val1875Met
NM_194323.3:c.3322G>A MANE Plus Clinical NP_919304.1:p.Val1108Met
ENST00000339598.8:c.3322G>A MANE Plus Clinical ENSP00000344521.3:p.Val1108Met
NM_001287489.1:c.5623G>A NP_001274418.1:p.Val1875Met
NM_001287489.2:c.5623G>A NP_001274418.1:p.Val1875Met
NM_004802.3:c.3322G>A NP_004793.2:p.Val1108Met
NM_004802.4:c.3322G>A NP_004793.2:p.Val1108Met
NM_194248.2:c.5623G>A NP_919224.1:p.Val1875Met
NM_194322.2:c.3553G>A NP_919303.1:p.Val1185Met
NM_194322.3:c.3553G>A NP_919303.1:p.Val1185Met
NM_194323.2:c.3322G>A NP_919304.1:p.Val1108Met
ENST00000272371.6:c.5623G>A ENSP00000272371.2:p.Val1875Met
ENST00000338581.10:c.3322G>A ENSP00000345137.6:p.Val1108Met
ENST00000339598.7:c.3322G>A ENSP00000344521.3:p.Val1108Met
ENST00000402415.7:c.3553G>A ENSP00000383906.3:p.Val1185Met
ENST00000402415.8:c.3382G>A ENSP00000383906.4:p.Val1128Met
ENST00000403946.7:c.5623G>A ENSP00000385255.3:p.Val1875Met
XM_005264644.2:c.5608G>A XP_005264701.1:p.Val1870Met
XM_011533185.1:c.5668G>A XP_011531487.1:p.Val1890Met
XM_017005338.1:c.5563G>A XP_016860827.1:p.Val1855Met