Canonical Allele Identifier: CA2620017202

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80359023-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80359023A>C , CM000674.2:g.80359023A>C	GRCh38
NC_000012.11:g.80752803A>C , CM000674.1:g.80752803A>C	GRCh37
NC_000012.10:g.79276934A>C	NCBI36
NG_033008.1:g.154571A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6267+123A>C MANE Select	ENSP00000447211.2:n.6267+123A>C
ENST00000642294.1:c.207+123A>C	ENSP00000493572.1:n.207+123A>C
ENST00000646859.1:c.6132+123A>C	ENSP00000496036.1:n.6132+123A>C
ENST00000298820.7:c.1527+248A>C
ENST00000458043.6:c.6240+123A>C	ENSP00000400895.2:n.6240+123A>C
ENST00000546620.5:n.523+123A>C
ENST00000547103.5:c.6204+123A>C	ENSP00000447211.1:n.6204+123A>C
ENST00000550182.2:c.291+123A>C	ENSP00000449641.1:n.291+123A>C
ENST00000551340.5:c.395+123A>C
NM_173591.3:c.6240+123A>C	NP_775862.3:n.6240+123A>C
XM_005268802.2:c.6291+123A>C	XP_005268859.1:n.6291+123A>C
XM_011538191.1:c.6291+123A>C	XP_011536493.1:n.6291+123A>C
XM_011538192.1:c.6138+123A>C	XP_011536494.1:n.6138+123A>C
XM_011538193.1:c.5925+123A>C	XP_011536495.1:n.5925+123A>C
XM_005268802.3:c.6291+123A>C	XP_005268859.1:n.6291+123A>C
XM_011538192.2:c.6138+123A>C	XP_011536494.1:n.6138+123A>C
NM_001368062.1:c.6105+123A>C	NP_001354991.1:n.6105+123A>C
NM_001368062.3:c.6132+123A>C	NP_001354991.2:n.6132+123A>C
NM_001378609.3:c.6267+123A>C MANE Select	NP_001365538.2:n.6267+123A>C
NM_001378610.3:c.6267+123A>C	NP_001365539.2:n.6267+123A>C
NM_173591.7:c.6267+123A>C	NP_775862.4:n.6267+123A>C