Canonical Allele Identifier: CA480823830

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752680G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358900G>C , CM000674.2:g.80358900G>C	GRCh38
NC_000012.11:g.80752680G>C , CM000674.1:g.80752680G>C	GRCh37
NC_000012.10:g.79276811G>C	NCBI36
NG_033008.1:g.154448G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6267G>C MANE Select	ENSP00000447211.2:p.Val2089=
ENST00000642294.1:c.207G>C	ENSP00000493572.1:p.Val69=
ENST00000646859.1:c.6132G>C	ENSP00000496036.1:p.Val2044=
ENST00000298820.7:c.1527+125G>C
ENST00000458043.6:c.6240G>C	ENSP00000400895.2:p.Val2080=
ENST00000546620.5:n.523G>C
ENST00000547103.5:c.6204G>C	ENSP00000447211.1:p.Val2068=
ENST00000550182.2:c.291G>C	ENSP00000449641.1:p.Val97=
ENST00000551340.5:c.395G>C
NM_173591.3:c.6240G>C	NP_775862.3:p.Val2080=
XM_005268802.2:c.6291G>C	XP_005268859.1:p.Val2097=
XM_011538191.1:c.6291G>C	XP_011536493.1:p.Val2097=
XM_011538192.1:c.6138G>C	XP_011536494.1:p.Val2046=
XM_011538193.1:c.5925G>C	XP_011536495.1:p.Val1975=
XM_005268802.3:c.6291G>C	XP_005268859.1:p.Val2097=
XM_011538192.2:c.6138G>C	XP_011536494.1:p.Val2046=
NM_001368062.1:c.6105G>C	NP_001354991.1:p.Val2035=
NM_001368062.3:c.6132G>C	NP_001354991.2:p.Val2044=
NM_001378609.3:c.6267G>C MANE Select	NP_001365538.2:p.Val2089=
NM_001378610.3:c.6267G>C	NP_001365539.2:p.Val2089=
NM_173591.7:c.6267G>C	NP_775862.4:p.Val2089=