Canonical Allele Identifier: CA385888931

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752653A>C (hg19) ; chr12:g.80358873A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358873A>C , CM000674.2:g.80358873A>C	GRCh38
NC_000012.11:g.80752653A>C , CM000674.1:g.80752653A>C	GRCh37
NC_000012.10:g.79276784A>C	NCBI36
NG_033008.1:g.154421A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6240A>C MANE Select	ENSP00000447211.2:p.Glu2080Asp
ENST00000642294.1:c.180A>C	ENSP00000493572.1:p.Glu60Asp
ENST00000646859.1:c.6105A>C	ENSP00000496036.1:p.Glu2035Asp
ENST00000298820.7:c.1527+98A>C
ENST00000458043.6:c.6213A>C	ENSP00000400895.2:p.Glu2071Asp
ENST00000546620.5:n.496A>C
ENST00000547103.5:c.6177A>C	ENSP00000447211.1:p.Glu2059Asp
ENST00000550182.2:c.264A>C	ENSP00000449641.1:p.Glu88Asp
ENST00000551340.5:c.368A>C
NM_173591.3:c.6213A>C	NP_775862.3:p.Glu2071Asp
XM_005268802.2:c.6264A>C	XP_005268859.1:p.Glu2088Asp
XM_011538191.1:c.6264A>C	XP_011536493.1:p.Glu2088Asp
XM_011538192.1:c.6111A>C	XP_011536494.1:p.Glu2037Asp
XM_011538193.1:c.5898A>C	XP_011536495.1:p.Glu1966Asp
XM_005268802.3:c.6264A>C	XP_005268859.1:p.Glu2088Asp
XM_011538192.2:c.6111A>C	XP_011536494.1:p.Glu2037Asp
NM_001368062.1:c.6078A>C	NP_001354991.1:p.Glu2026Asp
NM_001368062.3:c.6105A>C	NP_001354991.2:p.Glu2035Asp
NM_001378609.3:c.6240A>C MANE Select	NP_001365538.2:p.Glu2080Asp
NM_001378610.3:c.6240A>C	NP_001365539.2:p.Glu2080Asp
NM_173591.7:c.6240A>C	NP_775862.4:p.Glu2080Asp