Canonical Allele Identifier: CA6701961

Gene: OTOGL

Linked Data

• dbSNP Id: rs754980634
• ExAC: 12:80752678 G / T
• gnomAD v2: 12-80752678-G-T
• gnomAD v4: 12-80358898-G-T
• MyVariant Identifiers: chr12:g.80752678G>T (hg19) ; chr12:g.80358898G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358898G>T , CM000674.2:g.80358898G>T	GRCh38
NC_000012.11:g.80752678G>T , CM000674.1:g.80752678G>T	GRCh37
NC_000012.10:g.79276809G>T	NCBI36
NG_033008.1:g.154446G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6265G>T MANE Select	ENSP00000447211.2:p.Val2089Leu
ENST00000642294.1:c.205G>T	ENSP00000493572.1:p.Val69Leu
ENST00000646859.1:c.6130G>T	ENSP00000496036.1:p.Val2044Leu
ENST00000298820.7:c.1527+123G>T
ENST00000458043.6:c.6238G>T	ENSP00000400895.2:p.Val2080Leu
ENST00000546620.5:n.521G>T
ENST00000547103.5:c.6202G>T	ENSP00000447211.1:p.Val2068Leu
ENST00000550182.2:c.289G>T	ENSP00000449641.1:p.Val97Leu
ENST00000551340.5:c.393G>T
NM_173591.3:c.6238G>T	NP_775862.3:p.Val2080Leu
XM_005268802.2:c.6289G>T	XP_005268859.1:p.Val2097Leu
XM_011538191.1:c.6289G>T	XP_011536493.1:p.Val2097Leu
XM_011538192.1:c.6136G>T	XP_011536494.1:p.Val2046Leu
XM_011538193.1:c.5923G>T	XP_011536495.1:p.Val1975Leu
XM_005268802.3:c.6289G>T	XP_005268859.1:p.Val2097Leu
XM_011538192.2:c.6136G>T	XP_011536494.1:p.Val2046Leu
NM_001368062.1:c.6103G>T	NP_001354991.1:p.Val2035Leu
NM_001368062.3:c.6130G>T	NP_001354991.2:p.Val2044Leu
NM_001378609.3:c.6265G>T MANE Select	NP_001365538.2:p.Val2089Leu
NM_001378610.3:c.6265G>T	NP_001365539.2:p.Val2089Leu
NM_173591.7:c.6265G>T	NP_775862.4:p.Val2089Leu