Canonical Allele Identifier: CA240239597

Gene: OTOGL

Linked Data

• dbSNP Id: rs368168134
• MyVariant Identifiers: chr12:g.80752464C>T (hg19) ; chr12:g.80358684C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358684C>T , CM000674.2:g.80358684C>T	GRCh38
NC_000012.11:g.80752464C>T , CM000674.1:g.80752464C>T	GRCh37
NC_000012.10:g.79276595C>T	NCBI36
NG_033008.1:g.154232C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6135C>T MANE Select	ENSP00000447211.2:p.Asn2045=
ENST00000642294.1:c.75C>T	ENSP00000493572.1:p.Asn25=
ENST00000646859.1:c.6000C>T	ENSP00000496036.1:p.Asn2000=
ENST00000298820.7:c.1436C>T
ENST00000458043.6:c.6108C>T	ENSP00000400895.2:p.Asn2036=
ENST00000546620.5:n.391C>T
ENST00000547103.5:c.6072C>T	ENSP00000447211.1:p.Asn2024=
ENST00000550182.2:c.159C>T	ENSP00000449641.1:p.Asn53=
ENST00000551340.5:c.263C>T
NM_173591.3:c.6108C>T	NP_775862.3:p.Asn2036=
XM_005268802.2:c.6159C>T	XP_005268859.1:p.Asn2053=
XM_011538191.1:c.6159C>T	XP_011536493.1:p.Asn2053=
XM_011538192.1:c.6006C>T	XP_011536494.1:p.Asn2002=
XM_011538193.1:c.5793C>T	XP_011536495.1:p.Asn1931=
XM_005268802.3:c.6159C>T	XP_005268859.1:p.Asn2053=
XM_011538192.2:c.6006C>T	XP_011536494.1:p.Asn2002=
NM_001368062.1:c.5973C>T	NP_001354991.1:p.Asn1991=
NM_001368062.3:c.6000C>T	NP_001354991.2:p.Asn2000=
NM_001378609.3:c.6135C>T MANE Select	NP_001365538.2:p.Asn2045=
NM_001378610.3:c.6135C>T	NP_001365539.2:p.Asn2045=
NM_173591.7:c.6135C>T	NP_775862.4:p.Asn2045=