Canonical Allele Identifier: CA6525193

Gene: ANO6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45367782G>A , CM000674.2:g.45367782G>A	GRCh38
NC_000012.11:g.45761565G>A , CM000674.1:g.45761565G>A	GRCh37
NC_000012.10:g.44047832G>A	NCBI36
NG_028220.1:g.156796G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320560.13:c.1093G>A MANE Select	ENSP00000320087.8:p.Glu365Lys
ENST00000679426.1:c.1060G>A	ENSP00000506600.1:p.Glu354Lys
ENST00000679761.1:c.1093G>A	ENSP00000505361.1:p.Glu365Lys
ENST00000680201.1:c.1093G>A	ENSP00000506222.1:p.Glu365Lys
ENST00000680371.1:c.1093G>A	ENSP00000506392.1:p.Glu365Lys
ENST00000680498.1:c.676G>A	ENSP00000506613.1:p.Glu226Lys
ENST00000681156.1:c.1093G>A	ENSP00000506069.1:p.Glu365Lys
ENST00000681817.1:c.676G>A	ENSP00000506683.1:p.Glu226Lys
ENST00000320560.12:c.1093G>A	ENSP00000320087.8:p.Glu365Lys
ENST00000423947.7:c.1156G>A	ENSP00000409126.3:p.Glu386Lys
ENST00000425752.6:c.1093G>A	ENSP00000391417.2:p.Glu365Lys
ENST00000426898.2:n.1348G>A
ENST00000441606.2:c.1039G>A	ENSP00000413137.2:p.Glu347Lys
NM_001025356.2:c.1093G>A	NP_001020527.2:p.Glu365Lys
NM_001142678.1:c.1039G>A	NP_001136150.1:p.Glu347Lys
NM_001142679.1:c.1093G>A	NP_001136151.1:p.Glu365Lys
NM_001204803.1:c.1156G>A	NP_001191732.1:p.Glu386Lys
XM_005268706.3:c.1060G>A	XP_005268763.1:p.Glu354Lys
XM_005268707.2:c.994G>A	XP_005268764.1:p.Glu332Lys
XM_011538024.1:c.1156G>A	XP_011536326.1:p.Glu386Lys
XM_005268706.5:c.1060G>A	XP_005268763.1:p.Glu354Lys
XM_005268707.4:c.994G>A	XP_005268764.1:p.Glu332Lys
NM_001025356.3:c.1093G>A MANE Select	NP_001020527.2:p.Glu365Lys
NM_001142678.2:c.1039G>A	NP_001136150.1:p.Glu347Lys
NM_001142679.2:c.1093G>A	NP_001136151.1:p.Glu365Lys
NM_001204803.2:c.1156G>A	NP_001191732.1:p.Glu386Lys