Canonical Allele Identifier: CA6525362

Gene: ANO6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45401867A>G , CM000674.2:g.45401867A>G	GRCh38
NC_000012.11:g.45795650A>G , CM000674.1:g.45795650A>G	GRCh37
NC_000012.10:g.44081917A>G	NCBI36
NG_028220.1:g.190881A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320560.13:c.1459A>G MANE Select	ENSP00000320087.8:p.Lys487Glu
ENST00000679426.1:c.1426A>G	ENSP00000506600.1:p.Lys476Glu
ENST00000679761.1:c.1459A>G	ENSP00000505361.1:p.Lys487Glu
ENST00000680201.1:c.1459A>G	ENSP00000506222.1:p.Lys487Glu
ENST00000680371.1:c.1459A>G	ENSP00000506392.1:p.Lys487Glu
ENST00000680498.1:c.1042A>G	ENSP00000506613.1:p.Lys348Glu
ENST00000681156.1:c.1459A>G	ENSP00000506069.1:p.Lys487Glu
ENST00000681817.1:c.1042A>G	ENSP00000506683.1:p.Lys348Glu
ENST00000320560.12:c.1459A>G	ENSP00000320087.8:p.Lys487Glu
ENST00000423947.7:c.1522A>G	ENSP00000409126.3:p.Lys508Glu
ENST00000425752.6:c.1459A>G	ENSP00000391417.2:p.Lys487Glu
ENST00000426898.2:n.1875A>G
ENST00000441606.2:c.1405A>G	ENSP00000413137.2:p.Lys469Glu
NM_001025356.2:c.1459A>G	NP_001020527.2:p.Lys487Glu
NM_001142678.1:c.1405A>G	NP_001136150.1:p.Lys469Glu
NM_001142679.1:c.1459A>G	NP_001136151.1:p.Lys487Glu
NM_001204803.1:c.1522A>G	NP_001191732.1:p.Lys508Glu
XM_005268706.3:c.1426A>G	XP_005268763.1:p.Lys476Glu
XM_005268707.2:c.1360A>G	XP_005268764.1:p.Lys454Glu
XM_011538024.1:c.1522A>G	XP_011536326.1:p.Lys508Glu
XR_944886.1:n.1352-3643T>C
XR_944888.1:n.1352-3643T>C
XM_005268706.5:c.1426A>G	XP_005268763.1:p.Lys476Glu
XM_005268707.4:c.1360A>G	XP_005268764.1:p.Lys454Glu
XR_001749096.1:n.1353-3643T>C
XR_944886.2:n.1353-3643T>C
NM_001025356.3:c.1459A>G MANE Select	NP_001020527.2:p.Lys487Glu
NM_001142678.2:c.1405A>G	NP_001136150.1:p.Lys469Glu
NM_001142679.2:c.1459A>G	NP_001136151.1:p.Lys487Glu
NM_001204803.2:c.1522A>G	NP_001191732.1:p.Lys508Glu