Canonical Allele Identifier: CA385888942

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358877-C-A
• MyVariant Identifiers: chr12:g.80752657C>A (hg19) ; chr12:g.80358877C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358877C>A , CM000674.2:g.80358877C>A	GRCh38
NC_000012.11:g.80752657C>A , CM000674.1:g.80752657C>A	GRCh37
NC_000012.10:g.79276788C>A	NCBI36
NG_033008.1:g.154425C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6244C>A MANE Select	ENSP00000447211.2:p.Leu2082Ile
ENST00000642294.1:c.184C>A	ENSP00000493572.1:p.Leu62Ile
ENST00000646859.1:c.6109C>A	ENSP00000496036.1:p.Leu2037Ile
ENST00000298820.7:c.1527+102C>A
ENST00000458043.6:c.6217C>A	ENSP00000400895.2:p.Leu2073Ile
ENST00000546620.5:n.500C>A
ENST00000547103.5:c.6181C>A	ENSP00000447211.1:p.Leu2061Ile
ENST00000550182.2:c.268C>A	ENSP00000449641.1:p.Leu90Ile
ENST00000551340.5:c.372C>A
NM_173591.3:c.6217C>A	NP_775862.3:p.Leu2073Ile
XM_005268802.2:c.6268C>A	XP_005268859.1:p.Leu2090Ile
XM_011538191.1:c.6268C>A	XP_011536493.1:p.Leu2090Ile
XM_011538192.1:c.6115C>A	XP_011536494.1:p.Leu2039Ile
XM_011538193.1:c.5902C>A	XP_011536495.1:p.Leu1968Ile
XM_005268802.3:c.6268C>A	XP_005268859.1:p.Leu2090Ile
XM_011538192.2:c.6115C>A	XP_011536494.1:p.Leu2039Ile
NM_001368062.1:c.6082C>A	NP_001354991.1:p.Leu2028Ile
NM_001368062.3:c.6109C>A	NP_001354991.2:p.Leu2037Ile
NM_001378609.3:c.6244C>A MANE Select	NP_001365538.2:p.Leu2082Ile
NM_001378610.3:c.6244C>A	NP_001365539.2:p.Leu2082Ile
NM_173591.7:c.6244C>A	NP_775862.4:p.Leu2082Ile