Canonical Allele Identifier: CA385888927

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358871-G-T
• MyVariant Identifiers: chr12:g.80752651G>T (hg19) ; chr12:g.80358871G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358871G>T , CM000674.2:g.80358871G>T	GRCh38
NC_000012.11:g.80752651G>T , CM000674.1:g.80752651G>T	GRCh37
NC_000012.10:g.79276782G>T	NCBI36
NG_033008.1:g.154419G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6238G>T MANE Select	ENSP00000447211.2:p.Glu2080Ter
ENST00000642294.1:c.178G>T	ENSP00000493572.1:p.Glu60Ter
ENST00000646859.1:c.6103G>T	ENSP00000496036.1:p.Glu2035Ter
ENST00000298820.7:c.1527+96G>T
ENST00000458043.6:c.6211G>T	ENSP00000400895.2:p.Glu2071Ter
ENST00000546620.5:n.494G>T
ENST00000547103.5:c.6175G>T	ENSP00000447211.1:p.Glu2059Ter
ENST00000550182.2:c.262G>T	ENSP00000449641.1:p.Glu88Ter
ENST00000551340.5:c.366G>T
NM_173591.3:c.6211G>T	NP_775862.3:p.Glu2071Ter
XM_005268802.2:c.6262G>T	XP_005268859.1:p.Glu2088Ter
XM_011538191.1:c.6262G>T	XP_011536493.1:p.Glu2088Ter
XM_011538192.1:c.6109G>T	XP_011536494.1:p.Glu2037Ter
XM_011538193.1:c.5896G>T	XP_011536495.1:p.Glu1966Ter
XM_005268802.3:c.6262G>T	XP_005268859.1:p.Glu2088Ter
XM_011538192.2:c.6109G>T	XP_011536494.1:p.Glu2037Ter
NM_001368062.1:c.6076G>T	NP_001354991.1:p.Glu2026Ter
NM_001368062.3:c.6103G>T	NP_001354991.2:p.Glu2035Ter
NM_001378609.3:c.6238G>T MANE Select	NP_001365538.2:p.Glu2080Ter
NM_001378610.3:c.6238G>T	NP_001365539.2:p.Glu2080Ter
NM_173591.7:c.6238G>T	NP_775862.4:p.Glu2080Ter