Canonical Allele Identifier: CA385888917

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358867-C-A
• MyVariant Identifiers: chr12:g.80752647C>A (hg19) ; chr12:g.80358867C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358867C>A , CM000674.2:g.80358867C>A	GRCh38
NC_000012.11:g.80752647C>A , CM000674.1:g.80752647C>A	GRCh37
NC_000012.10:g.79276778C>A	NCBI36
NG_033008.1:g.154415C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6234C>A MANE Select	ENSP00000447211.2:p.Asn2078Lys
ENST00000642294.1:c.174C>A	ENSP00000493572.1:p.Asn58Lys
ENST00000646859.1:c.6099C>A	ENSP00000496036.1:p.Asn2033Lys
ENST00000298820.7:c.1527+92C>A
ENST00000458043.6:c.6207C>A	ENSP00000400895.2:p.Asn2069Lys
ENST00000546620.5:n.490C>A
ENST00000547103.5:c.6171C>A	ENSP00000447211.1:p.Asn2057Lys
ENST00000550182.2:c.258C>A	ENSP00000449641.1:p.Asn86Lys
ENST00000551340.5:c.362C>A
NM_173591.3:c.6207C>A	NP_775862.3:p.Asn2069Lys
XM_005268802.2:c.6258C>A	XP_005268859.1:p.Asn2086Lys
XM_011538191.1:c.6258C>A	XP_011536493.1:p.Asn2086Lys
XM_011538192.1:c.6105C>A	XP_011536494.1:p.Asn2035Lys
XM_011538193.1:c.5892C>A	XP_011536495.1:p.Asn1964Lys
XM_005268802.3:c.6258C>A	XP_005268859.1:p.Asn2086Lys
XM_011538192.2:c.6105C>A	XP_011536494.1:p.Asn2035Lys
NM_001368062.1:c.6072C>A	NP_001354991.1:p.Asn2024Lys
NM_001368062.3:c.6099C>A	NP_001354991.2:p.Asn2033Lys
NM_001378609.3:c.6234C>A MANE Select	NP_001365538.2:p.Asn2078Lys
NM_001378610.3:c.6234C>A	NP_001365539.2:p.Asn2078Lys
NM_173591.7:c.6234C>A	NP_775862.4:p.Asn2078Lys