Canonical Allele Identifier: CA385850032

Gene: OTOGL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000547103.7:c.842T>C MANE Select	ENSP00000447211.2:p.Met281Thr
ENST00000643417.1:n.1502T>C
ENST00000646859.1:c.842T>C	ENSP00000496036.1:p.Met281Thr
ENST00000458043.6:c.815T>C	ENSP00000400895.2:p.Met272Thr
ENST00000547103.5:c.815T>C	ENSP00000447211.1:p.Met272Thr
NM_173591.3:c.815T>C	NP_775862.3:p.Met272Thr
XM_005268802.2:c.866T>C	XP_005268859.1:p.Met289Thr
XM_011538191.1:c.866T>C	XP_011536493.1:p.Met289Thr
XM_011538192.1:c.713T>C	XP_011536494.1:p.Met238Thr
XM_011538193.1:c.500T>C	XP_011536495.1:p.Met167Thr
XM_005268802.3:c.866T>C	XP_005268859.1:p.Met289Thr
XM_011538192.2:c.713T>C	XP_011536494.1:p.Met238Thr
NM_001368062.1:c.815T>C	NP_001354991.1:p.Met272Thr
NM_001368062.3:c.842T>C	NP_001354991.2:p.Met281Thr
NM_001378609.3:c.842T>C MANE Select	NP_001365538.2:p.Met281Thr
NM_001378610.3:c.842T>C	NP_001365539.2:p.Met281Thr
NM_173591.7:c.842T>C	NP_775862.4:p.Met281Thr