Canonical Allele Identifier: CA6700982
Gene: OTOGL HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.80302784G>A
GRCh37 chr12:g.80696564G>A
gnomAD v2:
12:80696564 G / A
gnomAD v3:
12:80302784 G / A
gnomAD v4:
chr12-80302784-G-A
Joint Max Group AF 0.00003764 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00003643 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80302784G>A , CM000674.2:g.80302784G>A GRCh38
NC_000012.11:g.80696564G>A , CM000674.1:g.80696564G>A GRCh37
NC_000012.10:g.79220695G>A NCBI36
NG_033008.1:g.98332G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000547103.7:c.3213+1G>A MANE Select ENSP00000447211.2:n.3213+1G>A
ENST00000646859.1:c.3078+1G>A ENSP00000496036.1:n.3078+1G>A
ENST00000458043.6:c.3186+1G>A ENSP00000400895.2:n.3186+1G>A
ENST00000547103.5:c.3186+1G>A ENSP00000447211.1:n.3186+1G>A
NM_173591.3:c.3186+1G>A NP_775862.3:n.3186+1G>A
XM_005268802.2:c.3237+1G>A XP_005268859.1:n.3237+1G>A
XM_011538191.1:c.3237+1G>A XP_011536493.1:n.3237+1G>A
XM_011538192.1:c.3084+1G>A XP_011536494.1:n.3084+1G>A
XM_011538193.1:c.2871+1G>A XP_011536495.1:n.2871+1G>A
XM_005268802.3:c.3237+1G>A XP_005268859.1:n.3237+1G>A
XM_011538192.2:c.3084+1G>A XP_011536494.1:n.3084+1G>A
NM_001368062.1:c.3051+1G>A NP_001354991.1:n.3051+1G>A
NM_001368062.3:c.3078+1G>A NP_001354991.2:n.3078+1G>A
NM_001378609.3:c.3213+1G>A MANE Select NP_001365538.2:n.3213+1G>A
NM_001378610.3:c.3213+1G>A NP_001365539.2:n.3213+1G>A
NM_173591.7:c.3213+1G>A NP_775862.4:n.3213+1G>A
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