Canonical Allele Identifier: CA480823670

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752647C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358867C>T , CM000674.2:g.80358867C>T	GRCh38
NC_000012.11:g.80752647C>T , CM000674.1:g.80752647C>T	GRCh37
NC_000012.10:g.79276778C>T	NCBI36
NG_033008.1:g.154415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6234C>T MANE Select	ENSP00000447211.2:p.Asn2078=
ENST00000642294.1:c.174C>T	ENSP00000493572.1:p.Asn58=
ENST00000646859.1:c.6099C>T	ENSP00000496036.1:p.Asn2033=
ENST00000298820.7:c.1527+92C>T
ENST00000458043.6:c.6207C>T	ENSP00000400895.2:p.Asn2069=
ENST00000546620.5:n.490C>T
ENST00000547103.5:c.6171C>T	ENSP00000447211.1:p.Asn2057=
ENST00000550182.2:c.258C>T	ENSP00000449641.1:p.Asn86=
ENST00000551340.5:c.362C>T
NM_173591.3:c.6207C>T	NP_775862.3:p.Asn2069=
XM_005268802.2:c.6258C>T	XP_005268859.1:p.Asn2086=
XM_011538191.1:c.6258C>T	XP_011536493.1:p.Asn2086=
XM_011538192.1:c.6105C>T	XP_011536494.1:p.Asn2035=
XM_011538193.1:c.5892C>T	XP_011536495.1:p.Asn1964=
XM_005268802.3:c.6258C>T	XP_005268859.1:p.Asn2086=
XM_011538192.2:c.6105C>T	XP_011536494.1:p.Asn2035=
NM_001368062.1:c.6072C>T	NP_001354991.1:p.Asn2024=
NM_001368062.3:c.6099C>T	NP_001354991.2:p.Asn2033=
NM_001378609.3:c.6234C>T MANE Select	NP_001365538.2:p.Asn2078=
NM_001378610.3:c.6234C>T	NP_001365539.2:p.Asn2078=
NM_173591.7:c.6234C>T	NP_775862.4:p.Asn2078=