Canonical Allele Identifier: CA480823471

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358756-T-C
• MyVariant Identifiers: chr12:g.80752536T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358756T>C , CM000674.2:g.80358756T>C	GRCh38
NC_000012.11:g.80752536T>C , CM000674.1:g.80752536T>C	GRCh37
NC_000012.10:g.79276667T>C	NCBI36
NG_033008.1:g.154304T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6207T>C MANE Select	ENSP00000447211.2:p.Cys2069=
ENST00000642294.1:c.147T>C	ENSP00000493572.1:p.Cys49=
ENST00000646859.1:c.6072T>C	ENSP00000496036.1:p.Cys2024=
ENST00000298820.7:c.1508T>C
ENST00000458043.6:c.6180T>C	ENSP00000400895.2:p.Cys2060=
ENST00000546620.5:n.463T>C
ENST00000547103.5:c.6144T>C	ENSP00000447211.1:p.Cys2048=
ENST00000550182.2:c.231T>C	ENSP00000449641.1:p.Cys77=
ENST00000551340.5:c.335T>C
NM_173591.3:c.6180T>C	NP_775862.3:p.Cys2060=
XM_005268802.2:c.6231T>C	XP_005268859.1:p.Cys2077=
XM_011538191.1:c.6231T>C	XP_011536493.1:p.Cys2077=
XM_011538192.1:c.6078T>C	XP_011536494.1:p.Cys2026=
XM_011538193.1:c.5865T>C	XP_011536495.1:p.Cys1955=
XM_005268802.3:c.6231T>C	XP_005268859.1:p.Cys2077=
XM_011538192.2:c.6078T>C	XP_011536494.1:p.Cys2026=
NM_001368062.1:c.6045T>C	NP_001354991.1:p.Cys2015=
NM_001368062.3:c.6072T>C	NP_001354991.2:p.Cys2024=
NM_001378609.3:c.6207T>C MANE Select	NP_001365538.2:p.Cys2069=
NM_001378610.3:c.6207T>C	NP_001365539.2:p.Cys2069=
NM_173591.7:c.6207T>C	NP_775862.4:p.Cys2069=