Canonical Allele Identifier: CA385850033

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80632655T>A (hg19) ; chr12:g.80238875T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80238875T>A , CM000674.2:g.80238875T>A	GRCh38
NC_000012.11:g.80632655T>A , CM000674.1:g.80632655T>A	GRCh37
NC_000012.10:g.79156786T>A	NCBI36
NG_033008.1:g.34423T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.842T>A MANE Select	ENSP00000447211.2:p.Met281Lys
ENST00000643417.1:n.1502T>A
ENST00000646859.1:c.842T>A	ENSP00000496036.1:p.Met281Lys
ENST00000458043.6:c.815T>A	ENSP00000400895.2:p.Met272Lys
ENST00000547103.5:c.815T>A	ENSP00000447211.1:p.Met272Lys
NM_173591.3:c.815T>A	NP_775862.3:p.Met272Lys
XM_005268802.2:c.866T>A	XP_005268859.1:p.Met289Lys
XM_011538191.1:c.866T>A	XP_011536493.1:p.Met289Lys
XM_011538192.1:c.713T>A	XP_011536494.1:p.Met238Lys
XM_011538193.1:c.500T>A	XP_011536495.1:p.Met167Lys
XM_005268802.3:c.866T>A	XP_005268859.1:p.Met289Lys
XM_011538192.2:c.713T>A	XP_011536494.1:p.Met238Lys
NM_001368062.1:c.815T>A	NP_001354991.1:p.Met272Lys
NM_001368062.3:c.842T>A	NP_001354991.2:p.Met281Lys
NM_001378609.3:c.842T>A MANE Select	NP_001365538.2:p.Met281Lys
NM_001378610.3:c.842T>A	NP_001365539.2:p.Met281Lys
NM_173591.7:c.842T>A	NP_775862.4:p.Met281Lys