Canonical Allele Identifier: CA385888812

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358740-A-G
• MyVariant Identifiers: chr12:g.80752520A>G (hg19) ; chr12:g.80358740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358740A>G , CM000674.2:g.80358740A>G	GRCh38
NC_000012.11:g.80752520A>G , CM000674.1:g.80752520A>G	GRCh37
NC_000012.10:g.79276651A>G	NCBI36
NG_033008.1:g.154288A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6191A>G MANE Select	ENSP00000447211.2:p.Asn2064Ser
ENST00000642294.1:c.131A>G	ENSP00000493572.1:p.Asn44Ser
ENST00000646859.1:c.6056A>G	ENSP00000496036.1:p.Asn2019Ser
ENST00000298820.7:c.1492A>G
ENST00000458043.6:c.6164A>G	ENSP00000400895.2:p.Asn2055Ser
ENST00000546620.5:n.447A>G
ENST00000547103.5:c.6128A>G	ENSP00000447211.1:p.Asn2043Ser
ENST00000550182.2:c.215A>G	ENSP00000449641.1:p.Asn72Ser
ENST00000551340.5:c.319A>G
NM_173591.3:c.6164A>G	NP_775862.3:p.Asn2055Ser
XM_005268802.2:c.6215A>G	XP_005268859.1:p.Asn2072Ser
XM_011538191.1:c.6215A>G	XP_011536493.1:p.Asn2072Ser
XM_011538192.1:c.6062A>G	XP_011536494.1:p.Asn2021Ser
XM_011538193.1:c.5849A>G	XP_011536495.1:p.Asn1950Ser
XM_005268802.3:c.6215A>G	XP_005268859.1:p.Asn2072Ser
XM_011538192.2:c.6062A>G	XP_011536494.1:p.Asn2021Ser
NM_001368062.1:c.6029A>G	NP_001354991.1:p.Asn2010Ser
NM_001368062.3:c.6056A>G	NP_001354991.2:p.Asn2019Ser
NM_001378609.3:c.6191A>G MANE Select	NP_001365538.2:p.Asn2064Ser
NM_001378610.3:c.6191A>G	NP_001365539.2:p.Asn2064Ser
NM_173591.7:c.6191A>G	NP_775862.4:p.Asn2064Ser