Canonical Allele Identifier: CA385888759

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752499A>C (hg19) ; chr12:g.80358719A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358719A>C , CM000674.2:g.80358719A>C	GRCh38
NC_000012.11:g.80752499A>C , CM000674.1:g.80752499A>C	GRCh37
NC_000012.10:g.79276630A>C	NCBI36
NG_033008.1:g.154267A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6170A>C MANE Select	ENSP00000447211.2:p.Asp2057Ala
ENST00000642294.1:c.110A>C	ENSP00000493572.1:p.Asp37Ala
ENST00000646859.1:c.6035A>C	ENSP00000496036.1:p.Asp2012Ala
ENST00000298820.7:c.1471A>C
ENST00000458043.6:c.6143A>C	ENSP00000400895.2:p.Asp2048Ala
ENST00000546620.5:n.426A>C
ENST00000547103.5:c.6107A>C	ENSP00000447211.1:p.Asp2036Ala
ENST00000550182.2:c.194A>C	ENSP00000449641.1:p.Asp65Ala
ENST00000551340.5:c.298A>C
NM_173591.3:c.6143A>C	NP_775862.3:p.Asp2048Ala
XM_005268802.2:c.6194A>C	XP_005268859.1:p.Asp2065Ala
XM_011538191.1:c.6194A>C	XP_011536493.1:p.Asp2065Ala
XM_011538192.1:c.6041A>C	XP_011536494.1:p.Asp2014Ala
XM_011538193.1:c.5828A>C	XP_011536495.1:p.Asp1943Ala
XM_005268802.3:c.6194A>C	XP_005268859.1:p.Asp2065Ala
XM_011538192.2:c.6041A>C	XP_011536494.1:p.Asp2014Ala
NM_001368062.1:c.6008A>C	NP_001354991.1:p.Asp2003Ala
NM_001368062.3:c.6035A>C	NP_001354991.2:p.Asp2012Ala
NM_001378609.3:c.6170A>C MANE Select	NP_001365538.2:p.Asp2057Ala
NM_001378610.3:c.6170A>C	NP_001365539.2:p.Asp2057Ala
NM_173591.7:c.6170A>C	NP_775862.4:p.Asp2057Ala