Canonical Allele Identifier: CA385888816
Gene: OTOGL HGNC NCBI

Linked Data

dbSNP Id: rs1330950877

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80358742G>C , CM000674.2:g.80358742G>C GRCh38
NC_000012.11:g.80752522G>C , CM000674.1:g.80752522G>C GRCh37
NC_000012.10:g.79276653G>C NCBI36
NG_033008.1:g.154290G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000547103.7:c.6193G>C MANE Select ENSP00000447211.2:p.Val2065Leu
ENST00000642294.1:c.133G>C ENSP00000493572.1:p.Val45Leu
ENST00000646859.1:c.6058G>C ENSP00000496036.1:p.Val2020Leu
ENST00000298820.7:c.1494G>C
ENST00000458043.6:c.6166G>C ENSP00000400895.2:p.Val2056Leu
ENST00000546620.5:n.449G>C
ENST00000547103.5:c.6130G>C ENSP00000447211.1:p.Val2044Leu
ENST00000550182.2:c.217G>C ENSP00000449641.1:p.Val73Leu
ENST00000551340.5:c.321G>C
NM_173591.3:c.6166G>C NP_775862.3:p.Val2056Leu
XM_005268802.2:c.6217G>C XP_005268859.1:p.Val2073Leu
XM_011538191.1:c.6217G>C XP_011536493.1:p.Val2073Leu
XM_011538192.1:c.6064G>C XP_011536494.1:p.Val2022Leu
XM_011538193.1:c.5851G>C XP_011536495.1:p.Val1951Leu
XM_005268802.3:c.6217G>C XP_005268859.1:p.Val2073Leu
XM_011538192.2:c.6064G>C XP_011536494.1:p.Val2022Leu
NM_001368062.1:c.6031G>C NP_001354991.1:p.Val2011Leu
NM_001368062.3:c.6058G>C NP_001354991.2:p.Val2020Leu
NM_001378609.3:c.6193G>C MANE Select NP_001365538.2:p.Val2065Leu
NM_001378610.3:c.6193G>C NP_001365539.2:p.Val2065Leu
NM_173591.7:c.6193G>C NP_775862.4:p.Val2065Leu