Canonical Allele Identifier: CA6700579

Gene: OTOGL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80257937C>T , CM000674.2:g.80257937C>T	GRCh38
NC_000012.11:g.80651717C>T , CM000674.1:g.80651717C>T	GRCh37
NC_000012.10:g.79175848C>T	NCBI36
NG_033008.1:g.53485C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378609.3:c.1824C>T MANE Select	NP_001365538.2:p.Ser608=
ENST00000547103.7:c.1824C>T MANE Select	ENSP00000447211.2:p.Ser608=
NM_001368062.1:c.1797C>T	NP_001354991.1:p.Ser599=
NM_001368062.3:c.1824C>T	NP_001354991.2:p.Ser608=
NM_001378610.3:c.1824C>T	NP_001365539.2:p.Ser608=
NM_173591.3:c.1797C>T	NP_775862.3:p.Ser599=
NM_173591.7:c.1824C>T	NP_775862.4:p.Ser608=
ENST00000458043.6:c.1797C>T	ENSP00000400895.2:p.Ser599=
ENST00000547103.5:c.1797C>T	ENSP00000447211.1:p.Ser599=
ENST00000643417.1:n.2484C>T
ENST00000646859.1:c.1824C>T	ENSP00000496036.1:p.Ser608=
XM_005268802.2:c.1848C>T	XP_005268859.1:p.Ser616=
XM_005268802.3:c.1848C>T	XP_005268859.1:p.Ser616=
XM_011538191.1:c.1848C>T	XP_011536493.1:p.Ser616=
XM_011538192.1:c.1695C>T	XP_011536494.1:p.Ser565=
XM_011538192.2:c.1695C>T	XP_011536494.1:p.Ser565=
XM_011538193.1:c.1482C>T	XP_011536495.1:p.Ser494=