Canonical Allele Identifier: CA480823421
Gene: OTOGL HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.80752527T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80358747T>A , CM000674.2:g.80358747T>A GRCh38
NC_000012.11:g.80752527T>A , CM000674.1:g.80752527T>A GRCh37
NC_000012.10:g.79276658T>A NCBI36
NG_033008.1:g.154295T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000547103.7:c.6198T>A MANE Select ENSP00000447211.2:p.Ser2066=
ENST00000642294.1:c.138T>A ENSP00000493572.1:p.Ser46=
ENST00000646859.1:c.6063T>A ENSP00000496036.1:p.Ser2021=
ENST00000298820.7:c.1499T>A
ENST00000458043.6:c.6171T>A ENSP00000400895.2:p.Ser2057=
ENST00000546620.5:n.454T>A
ENST00000547103.5:c.6135T>A ENSP00000447211.1:p.Ser2045=
ENST00000550182.2:c.222T>A ENSP00000449641.1:p.Ser74=
ENST00000551340.5:c.326T>A
NM_173591.3:c.6171T>A NP_775862.3:p.Ser2057=
XM_005268802.2:c.6222T>A XP_005268859.1:p.Ser2074=
XM_011538191.1:c.6222T>A XP_011536493.1:p.Ser2074=
XM_011538192.1:c.6069T>A XP_011536494.1:p.Ser2023=
XM_011538193.1:c.5856T>A XP_011536495.1:p.Ser1952=
XM_005268802.3:c.6222T>A XP_005268859.1:p.Ser2074=
XM_011538192.2:c.6069T>A XP_011536494.1:p.Ser2023=
NM_001368062.1:c.6036T>A NP_001354991.1:p.Ser2012=
NM_001368062.3:c.6063T>A NP_001354991.2:p.Ser2021=
NM_001378609.3:c.6198T>A MANE Select NP_001365538.2:p.Ser2066=
NM_001378610.3:c.6198T>A NP_001365539.2:p.Ser2066=
NM_173591.7:c.6198T>A NP_775862.4:p.Ser2066=