Canonical Allele Identifier: CA385888610

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752119G>C (hg19) ; chr12:g.80358339G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358339G>C , CM000674.2:g.80358339G>C	GRCh38
NC_000012.11:g.80752119G>C , CM000674.1:g.80752119G>C	GRCh37
NC_000012.10:g.79276250G>C	NCBI36
NG_033008.1:g.153887G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6111G>C MANE Select	ENSP00000447211.2:p.Gln2037His
ENST00000642294.1:c.51G>C	ENSP00000493572.1:p.Gln17His
ENST00000646859.1:c.5976G>C	ENSP00000496036.1:p.Gln1992His
ENST00000298820.7:c.1412G>C
ENST00000458043.6:c.6084G>C	ENSP00000400895.2:p.Gln2028His
ENST00000546620.5:n.367G>C
ENST00000547103.5:c.6048G>C	ENSP00000447211.1:p.Gln2016His
ENST00000550182.2:c.135G>C	ENSP00000449641.1:p.Gln45His
ENST00000551340.5:c.239G>C
NM_173591.3:c.6084G>C	NP_775862.3:p.Gln2028His
XM_005268802.2:c.6135G>C	XP_005268859.1:p.Gln2045His
XM_011538191.1:c.6135G>C	XP_011536493.1:p.Gln2045His
XM_011538192.1:c.5982G>C	XP_011536494.1:p.Gln1994His
XM_011538193.1:c.5769G>C	XP_011536495.1:p.Gln1923His
XM_005268802.3:c.6135G>C	XP_005268859.1:p.Gln2045His
XM_011538192.2:c.5982G>C	XP_011536494.1:p.Gln1994His
NM_001368062.1:c.5949G>C	NP_001354991.1:p.Gln1983His
NM_001368062.3:c.5976G>C	NP_001354991.2:p.Gln1992His
NM_001378609.3:c.6111G>C MANE Select	NP_001365538.2:p.Gln2037His
NM_001378610.3:c.6111G>C	NP_001365539.2:p.Gln2037His
NM_173591.7:c.6111G>C	NP_775862.4:p.Gln2037His