Canonical Allele Identifier: CA385850030

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80632654A>T (hg19) ; chr12:g.80238874A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80238874A>T , CM000674.2:g.80238874A>T	GRCh38
NC_000012.11:g.80632654A>T , CM000674.1:g.80632654A>T	GRCh37
NC_000012.10:g.79156785A>T	NCBI36
NG_033008.1:g.34422A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.841A>T MANE Select	ENSP00000447211.2:p.Met281Leu
ENST00000643417.1:n.1501A>T
ENST00000646859.1:c.841A>T	ENSP00000496036.1:p.Met281Leu
ENST00000458043.6:c.814A>T	ENSP00000400895.2:p.Met272Leu
ENST00000547103.5:c.814A>T	ENSP00000447211.1:p.Met272Leu
NM_173591.3:c.814A>T	NP_775862.3:p.Met272Leu
XM_005268802.2:c.865A>T	XP_005268859.1:p.Met289Leu
XM_011538191.1:c.865A>T	XP_011536493.1:p.Met289Leu
XM_011538192.1:c.712A>T	XP_011536494.1:p.Met238Leu
XM_011538193.1:c.499A>T	XP_011536495.1:p.Met167Leu
XM_005268802.3:c.865A>T	XP_005268859.1:p.Met289Leu
XM_011538192.2:c.712A>T	XP_011536494.1:p.Met238Leu
NM_001368062.1:c.814A>T	NP_001354991.1:p.Met272Leu
NM_001368062.3:c.841A>T	NP_001354991.2:p.Met281Leu
NM_001378609.3:c.841A>T MANE Select	NP_001365538.2:p.Met281Leu
NM_001378610.3:c.841A>T	NP_001365539.2:p.Met281Leu
NM_173591.7:c.841A>T	NP_775862.4:p.Met281Leu