Canonical Allele Identifier: CA385888658

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358675-T-G
• MyVariant Identifiers: chr12:g.80752455T>G (hg19) ; chr12:g.80358675T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358675T>G , CM000674.2:g.80358675T>G	GRCh38
NC_000012.11:g.80752455T>G , CM000674.1:g.80752455T>G	GRCh37
NC_000012.10:g.79276586T>G	NCBI36
NG_033008.1:g.154223T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6126T>G MANE Select	ENSP00000447211.2:p.Cys2042Trp
ENST00000642294.1:c.66T>G	ENSP00000493572.1:p.Cys22Trp
ENST00000646859.1:c.5991T>G	ENSP00000496036.1:p.Cys1997Trp
ENST00000298820.7:c.1427T>G
ENST00000458043.6:c.6099T>G	ENSP00000400895.2:p.Cys2033Trp
ENST00000546620.5:n.382T>G
ENST00000547103.5:c.6063T>G	ENSP00000447211.1:p.Cys2021Trp
ENST00000550182.2:c.150T>G	ENSP00000449641.1:p.Cys50Trp
ENST00000551340.5:c.254T>G
NM_173591.3:c.6099T>G	NP_775862.3:p.Cys2033Trp
XM_005268802.2:c.6150T>G	XP_005268859.1:p.Cys2050Trp
XM_011538191.1:c.6150T>G	XP_011536493.1:p.Cys2050Trp
XM_011538192.1:c.5997T>G	XP_011536494.1:p.Cys1999Trp
XM_011538193.1:c.5784T>G	XP_011536495.1:p.Cys1928Trp
XM_005268802.3:c.6150T>G	XP_005268859.1:p.Cys2050Trp
XM_011538192.2:c.5997T>G	XP_011536494.1:p.Cys1999Trp
NM_001368062.1:c.5964T>G	NP_001354991.1:p.Cys1988Trp
NM_001368062.3:c.5991T>G	NP_001354991.2:p.Cys1997Trp
NM_001378609.3:c.6126T>G MANE Select	NP_001365538.2:p.Cys2042Trp
NM_001378610.3:c.6126T>G	NP_001365539.2:p.Cys2042Trp
NM_173591.7:c.6126T>G	NP_775862.4:p.Cys2042Trp