Canonical Allele Identifier: CA385888844

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752535G>T (hg19) ; chr12:g.80358755G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358755G>T , CM000674.2:g.80358755G>T	GRCh38
NC_000012.11:g.80752535G>T , CM000674.1:g.80752535G>T	GRCh37
NC_000012.10:g.79276666G>T	NCBI36
NG_033008.1:g.154303G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6206G>T MANE Select	ENSP00000447211.2:p.Cys2069Phe
ENST00000642294.1:c.146G>T	ENSP00000493572.1:p.Cys49Phe
ENST00000646859.1:c.6071G>T	ENSP00000496036.1:p.Cys2024Phe
ENST00000298820.7:c.1507G>T
ENST00000458043.6:c.6179G>T	ENSP00000400895.2:p.Cys2060Phe
ENST00000546620.5:n.462G>T
ENST00000547103.5:c.6143G>T	ENSP00000447211.1:p.Cys2048Phe
ENST00000550182.2:c.230G>T	ENSP00000449641.1:p.Cys77Phe
ENST00000551340.5:c.334G>T
NM_173591.3:c.6179G>T	NP_775862.3:p.Cys2060Phe
XM_005268802.2:c.6230G>T	XP_005268859.1:p.Cys2077Phe
XM_011538191.1:c.6230G>T	XP_011536493.1:p.Cys2077Phe
XM_011538192.1:c.6077G>T	XP_011536494.1:p.Cys2026Phe
XM_011538193.1:c.5864G>T	XP_011536495.1:p.Cys1955Phe
XM_005268802.3:c.6230G>T	XP_005268859.1:p.Cys2077Phe
XM_011538192.2:c.6077G>T	XP_011536494.1:p.Cys2026Phe
NM_001368062.1:c.6044G>T	NP_001354991.1:p.Cys2015Phe
NM_001368062.3:c.6071G>T	NP_001354991.2:p.Cys2024Phe
NM_001378609.3:c.6206G>T MANE Select	NP_001365538.2:p.Cys2069Phe
NM_001378610.3:c.6206G>T	NP_001365539.2:p.Cys2069Phe
NM_173591.7:c.6206G>T	NP_775862.4:p.Cys2069Phe