Canonical Allele Identifier: CA385888636

Gene: OTOGL

Linked Data

• MyVariant Identifiers: chr12:g.80752129G>C (hg19) ; chr12:g.80358349G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358349G>C , CM000674.2:g.80358349G>C	GRCh38
NC_000012.11:g.80752129G>C , CM000674.1:g.80752129G>C	GRCh37
NC_000012.10:g.79276260G>C	NCBI36
NG_033008.1:g.153897G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6121G>C MANE Select	ENSP00000447211.2:p.Val2041Leu
ENST00000642294.1:c.61G>C	ENSP00000493572.1:p.Val21Leu
ENST00000646859.1:c.5986G>C	ENSP00000496036.1:p.Val1996Leu
ENST00000298820.7:c.1422G>C
ENST00000458043.6:c.6094G>C	ENSP00000400895.2:p.Val2032Leu
ENST00000546620.5:n.377G>C
ENST00000547103.5:c.6058G>C	ENSP00000447211.1:p.Val2020Leu
ENST00000550182.2:c.145G>C	ENSP00000449641.1:p.Val49Leu
ENST00000551340.5:c.249G>C
NM_173591.3:c.6094G>C	NP_775862.3:p.Val2032Leu
XM_005268802.2:c.6145G>C	XP_005268859.1:p.Val2049Leu
XM_011538191.1:c.6145G>C	XP_011536493.1:p.Val2049Leu
XM_011538192.1:c.5992G>C	XP_011536494.1:p.Val1998Leu
XM_011538193.1:c.5779G>C	XP_011536495.1:p.Val1927Leu
XM_005268802.3:c.6145G>C	XP_005268859.1:p.Val2049Leu
XM_011538192.2:c.5992G>C	XP_011536494.1:p.Val1998Leu
NM_001368062.1:c.5959G>C	NP_001354991.1:p.Val1987Leu
NM_001368062.3:c.5986G>C	NP_001354991.2:p.Val1996Leu
NM_001378609.3:c.6121G>C MANE Select	NP_001365538.2:p.Val2041Leu
NM_001378610.3:c.6121G>C	NP_001365539.2:p.Val2041Leu
NM_173591.7:c.6121G>C	NP_775862.4:p.Val2041Leu