Canonical Allele Identifier: CA44413980
Gene: OTOF HGNC NCBI

Linked Data

dbSNP Id: rs1018118704
gnomAD v2: 2-26690270-G-C
gnomAD v3: 2-26467402-G-C
gnomAD v4: 2-26467402-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26467402G>C , CM000664.2:g.26467402G>C GRCh38
NC_000002.11:g.26690270G>C , CM000664.1:g.26690270G>C GRCh37
NC_000002.10:g.26543774G>C NCBI36
NG_009937.1:g.96297C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.4190C>G MANE Select ENSP00000272371.2:p.Ala1397Gly
ENST00000339598.8:c.1889C>G MANE Plus Clinical ENSP00000344521.3:p.Ala630Gly
ENST00000402415.8:c.1949C>G ENSP00000383906.4:p.Ala650Gly
ENST00000272371.6:c.4190C>G ENSP00000272371.2:p.Ala1397Gly
ENST00000338581.10:c.1889C>G ENSP00000345137.6:p.Ala630Gly
ENST00000339598.7:c.1889C>G ENSP00000344521.3:p.Ala630Gly
ENST00000402415.7:c.2120C>G ENSP00000383906.3:p.Ala707Gly
ENST00000403946.7:c.4190C>G ENSP00000385255.3:p.Ala1397Gly
NM_001287489.1:c.4190C>G NP_001274418.1:p.Ala1397Gly
NM_004802.3:c.1889C>G NP_004793.2:p.Ala630Gly
NM_194248.2:c.4190C>G NP_919224.1:p.Ala1397Gly
NM_194322.2:c.2120C>G NP_919303.1:p.Ala707Gly
NM_194323.2:c.1889C>G NP_919304.1:p.Ala630Gly
XM_005264644.2:c.4175C>G XP_005264701.1:p.Ala1392Gly
XM_011533185.1:c.4235C>G XP_011531487.1:p.Ala1412Gly
XM_017005338.1:c.4130C>G XP_016860827.1:p.Ala1377Gly
NM_001287489.2:c.4190C>G NP_001274418.1:p.Ala1397Gly
NM_004802.4:c.1889C>G NP_004793.2:p.Ala630Gly
NM_194248.3:c.4190C>G MANE Select NP_919224.1:p.Ala1397Gly
NM_194322.3:c.2120C>G NP_919303.1:p.Ala707Gly
NM_194323.3:c.1889C>G MANE Plus Clinical NP_919304.1:p.Ala630Gly