Canonical Allele Identifier: CA385888779

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752507C>T (hg19) ; chr12:g.80358727C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358727C>T , CM000674.2:g.80358727C>T	GRCh38
NC_000012.11:g.80752507C>T , CM000674.1:g.80752507C>T	GRCh37
NC_000012.10:g.79276638C>T	NCBI36
NG_033008.1:g.154275C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6178C>T MANE Select	ENSP00000447211.2:p.Leu2060Phe
ENST00000642294.1:c.118C>T	ENSP00000493572.1:p.Leu40Phe
ENST00000646859.1:c.6043C>T	ENSP00000496036.1:p.Leu2015Phe
ENST00000298820.7:c.1479C>T
ENST00000458043.6:c.6151C>T	ENSP00000400895.2:p.Leu2051Phe
ENST00000546620.5:n.434C>T
ENST00000547103.5:c.6115C>T	ENSP00000447211.1:p.Leu2039Phe
ENST00000550182.2:c.202C>T	ENSP00000449641.1:p.Leu68Phe
ENST00000551340.5:c.306C>T
NM_173591.3:c.6151C>T	NP_775862.3:p.Leu2051Phe
XM_005268802.2:c.6202C>T	XP_005268859.1:p.Leu2068Phe
XM_011538191.1:c.6202C>T	XP_011536493.1:p.Leu2068Phe
XM_011538192.1:c.6049C>T	XP_011536494.1:p.Leu2017Phe
XM_011538193.1:c.5836C>T	XP_011536495.1:p.Leu1946Phe
XM_005268802.3:c.6202C>T	XP_005268859.1:p.Leu2068Phe
XM_011538192.2:c.6049C>T	XP_011536494.1:p.Leu2017Phe
NM_001368062.1:c.6016C>T	NP_001354991.1:p.Leu2006Phe
NM_001368062.3:c.6043C>T	NP_001354991.2:p.Leu2015Phe
NM_001378609.3:c.6178C>T MANE Select	NP_001365538.2:p.Leu2060Phe
NM_001378610.3:c.6178C>T	NP_001365539.2:p.Leu2060Phe
NM_173591.7:c.6178C>T	NP_775862.4:p.Leu2060Phe