Canonical Allele Identifier: CA6701622
Community Standard Title: NM_001378609.3(OTOGL):c.5051-14T>C
Gene: OTOGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80341934T>C , CM000674.2:g.80341934T>C GRCh38
NC_000012.11:g.80735714T>C , CM000674.1:g.80735714T>C GRCh37
NC_000012.10:g.79259845T>C NCBI36
NG_033008.1:g.137482T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001378609.3:c.5051-14T>C MANE Select NP_001365538.2:n.5051-14T>C
ENST00000547103.7:c.5051-14T>C MANE Select ENSP00000447211.2:n.5051-14T>C
NM_001368062.1:c.4889-14T>C NP_001354991.1:n.4889-14T>C
NM_001368062.3:c.4916-14T>C NP_001354991.2:n.4916-14T>C
NM_001378610.3:c.5051-14T>C NP_001365539.2:n.5051-14T>C
NM_173591.3:c.5024-14T>C NP_775862.3:n.5024-14T>C
NM_173591.7:c.5051-14T>C NP_775862.4:n.5051-14T>C
ENST00000298820.7:c.352-14T>C
ENST00000458043.6:c.5024-14T>C ENSP00000400895.2:n.5024-14T>C
ENST00000547103.5:c.4988-14T>C ENSP00000447211.1:n.4988-14T>C
ENST00000646859.1:c.4916-14T>C ENSP00000496036.1:n.4916-14T>C
XM_005268802.2:c.5075-14T>C XP_005268859.1:n.5075-14T>C
XM_005268802.3:c.5075-14T>C XP_005268859.1:n.5075-14T>C
XM_011538191.1:c.5075-14T>C XP_011536493.1:n.5075-14T>C
XM_011538192.1:c.4922-14T>C XP_011536494.1:n.4922-14T>C
XM_011538192.2:c.4922-14T>C XP_011536494.1:n.4922-14T>C
XM_011538193.1:c.4709-14T>C XP_011536495.1:n.4709-14T>C