Canonical Allele Identifier: CA340527
Gene: OTOF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6138
ClinVar RCV Id: RCV000006512
dbSNP Id: rs28937591

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26461756G>C , CM000664.2:g.26461756G>C GRCh38
NC_000002.11:g.26684624G>C , CM000664.1:g.26684624G>C GRCh37
NC_000002.10:g.26538128G>C NCBI36
NG_009937.1:g.101943C>G

Transcript Alleles

HGVS Amino-acid change
NM_001287489.1:c.5473C>G VV NP_001274418.1:p.Pro1825Ala
NM_004802.3:c.3172C>G VV NP_004793.2:p.Pro1058Ala
NM_194248.2:c.5473C>G VV NP_919224.1:p.Pro1825Ala
NM_194322.2:c.3403C>G VV NP_919303.1:p.Pro1135Ala
NM_194323.2:c.3172C>G VV NP_919304.1:p.Pro1058Ala
XM_005264644.2:n.5458C>G XP_005264701.1:p.Pro1820Ala
XM_011533185.1:n.5518C>G XP_011531487.1:p.Pro1840Ala
XM_017005338.1:n.5413C>G XP_016860827.1:p.Pro1805Ala
ENST00000272371.6:c.5473C>G ENSP00000272371.2:p.Pro1825Ala
ENST00000338581.10:c.3172C>G ENSP00000345137.6:p.Pro1058Ala
ENST00000339598.7:c.3172C>G ENSP00000344521.3:p.Pro1058Ala
ENST00000402415.7:c.3403C>G ENSP00000383906.3:p.Pro1135Ala
ENST00000403946.7:c.5473C>G ENSP00000385255.3:p.Pro1825Ala