Canonical Allele Identifier: CA385850036

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80238876-G-T
• MyVariant Identifiers: chr12:g.80632656G>T (hg19) ; chr12:g.80238876G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80238876G>T , CM000674.2:g.80238876G>T	GRCh38
NC_000012.11:g.80632656G>T , CM000674.1:g.80632656G>T	GRCh37
NC_000012.10:g.79156787G>T	NCBI36
NG_033008.1:g.34424G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.843G>T MANE Select	ENSP00000447211.2:p.Met281Ile
ENST00000643417.1:n.1503G>T
ENST00000646859.1:c.843G>T	ENSP00000496036.1:p.Met281Ile
ENST00000458043.6:c.816G>T	ENSP00000400895.2:p.Met272Ile
ENST00000547103.5:c.816G>T	ENSP00000447211.1:p.Met272Ile
NM_173591.3:c.816G>T	NP_775862.3:p.Met272Ile
XM_005268802.2:c.867G>T	XP_005268859.1:p.Met289Ile
XM_011538191.1:c.867G>T	XP_011536493.1:p.Met289Ile
XM_011538192.1:c.714G>T	XP_011536494.1:p.Met238Ile
XM_011538193.1:c.501G>T	XP_011536495.1:p.Met167Ile
XM_005268802.3:c.867G>T	XP_005268859.1:p.Met289Ile
XM_011538192.2:c.714G>T	XP_011536494.1:p.Met238Ile
NM_001368062.1:c.816G>T	NP_001354991.1:p.Met272Ile
NM_001368062.3:c.843G>T	NP_001354991.2:p.Met281Ile
NM_001378609.3:c.843G>T MANE Select	NP_001365538.2:p.Met281Ile
NM_001378610.3:c.843G>T	NP_001365539.2:p.Met281Ile
NM_173591.7:c.843G>T	NP_775862.4:p.Met281Ile