Canonical Allele Identifier: CA385888786

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752510G>C (hg19) ; chr12:g.80358730G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358730G>C , CM000674.2:g.80358730G>C	GRCh38
NC_000012.11:g.80752510G>C , CM000674.1:g.80752510G>C	GRCh37
NC_000012.10:g.79276641G>C	NCBI36
NG_033008.1:g.154278G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6181G>C MANE Select	ENSP00000447211.2:p.Val2061Leu
ENST00000642294.1:c.121G>C	ENSP00000493572.1:p.Val41Leu
ENST00000646859.1:c.6046G>C	ENSP00000496036.1:p.Val2016Leu
ENST00000298820.7:c.1482G>C
ENST00000458043.6:c.6154G>C	ENSP00000400895.2:p.Val2052Leu
ENST00000546620.5:n.437G>C
ENST00000547103.5:c.6118G>C	ENSP00000447211.1:p.Val2040Leu
ENST00000550182.2:c.205G>C	ENSP00000449641.1:p.Val69Leu
ENST00000551340.5:c.309G>C
NM_173591.3:c.6154G>C	NP_775862.3:p.Val2052Leu
XM_005268802.2:c.6205G>C	XP_005268859.1:p.Val2069Leu
XM_011538191.1:c.6205G>C	XP_011536493.1:p.Val2069Leu
XM_011538192.1:c.6052G>C	XP_011536494.1:p.Val2018Leu
XM_011538193.1:c.5839G>C	XP_011536495.1:p.Val1947Leu
XM_005268802.3:c.6205G>C	XP_005268859.1:p.Val2069Leu
XM_011538192.2:c.6052G>C	XP_011536494.1:p.Val2018Leu
NM_001368062.1:c.6019G>C	NP_001354991.1:p.Val2007Leu
NM_001368062.3:c.6046G>C	NP_001354991.2:p.Val2016Leu
NM_001378609.3:c.6181G>C MANE Select	NP_001365538.2:p.Val2061Leu
NM_001378610.3:c.6181G>C	NP_001365539.2:p.Val2061Leu
NM_173591.7:c.6181G>C	NP_775862.4:p.Val2061Leu