Canonical Allele Identifier: CA2049166675
Community Standard Title: NM_001378609.3(OTOGL):c.2395C= (p.His799=)
Gene: OTOGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80267257C= , CM000674.2:g.80267257C= GRCh38
NC_000012.11:g.80661037C= , CM000674.1:g.80661037C= GRCh37
NC_000012.10:g.79185168C= NCBI36
NG_033008.1:g.62805C=

Transcript Alleles

HGVS Amino-acid Change
NM_001378609.3:c.2395C= MANE Select NP_001365538.2:p.His799=
ENST00000547103.7:c.2395C= MANE Select ENSP00000447211.2:p.His799=
NM_001368062.1:c.2368C= NP_001354991.1:p.His790=
NM_001368062.3:c.2395C= NP_001354991.2:p.His799=
NM_001378610.3:c.2395C= NP_001365539.2:p.His799=
NM_173591.3:c.2368C= NP_775862.3:p.His790=
NM_173591.7:c.2395C= NP_775862.4:p.His799=
ENST00000458043.6:c.2368C= ENSP00000400895.2:p.His790=
ENST00000547103.5:c.2368C= ENSP00000447211.1:p.His790=
ENST00000646859.1:c.2395C= ENSP00000496036.1:p.His799=
XM_005268802.2:c.2419C= XP_005268859.1:p.His807=
XM_005268802.3:c.2419C= XP_005268859.1:p.His807=
XM_011538191.1:c.2419C= XP_011536493.1:p.His807=
XM_011538192.1:c.2266C= XP_011536494.1:p.His756=
XM_011538192.2:c.2266C= XP_011536494.1:p.His756=
XM_011538193.1:c.2053C= XP_011536495.1:p.His685=