Canonical Allele Identifier: CA6525289

Gene: ANO6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45388280G>A , CM000674.2:g.45388280G>A	GRCh38
NC_000012.11:g.45782063G>A , CM000674.1:g.45782063G>A	GRCh37
NC_000012.10:g.44068330G>A	NCBI36
NG_028220.1:g.177294G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320560.13:c.1285G>A MANE Select	ENSP00000320087.8:p.Val429Ile
ENST00000679426.1:c.1252G>A	ENSP00000506600.1:p.Val418Ile
ENST00000679761.1:c.1285G>A	ENSP00000505361.1:p.Val429Ile
ENST00000680201.1:c.1285G>A	ENSP00000506222.1:p.Val429Ile
ENST00000680371.1:c.1285G>A	ENSP00000506392.1:p.Val429Ile
ENST00000680498.1:c.868G>A	ENSP00000506613.1:p.Val290Ile
ENST00000681156.1:c.1285G>A	ENSP00000506069.1:p.Val429Ile
ENST00000681817.1:c.868G>A	ENSP00000506683.1:p.Val290Ile
ENST00000320560.12:c.1285G>A	ENSP00000320087.8:p.Val429Ile
ENST00000423947.7:c.1348G>A	ENSP00000409126.3:p.Val450Ile
ENST00000425752.6:c.1285G>A	ENSP00000391417.2:p.Val429Ile
ENST00000426898.2:n.1701G>A
ENST00000441606.2:c.1231G>A	ENSP00000413137.2:p.Val411Ile
NM_001025356.2:c.1285G>A	NP_001020527.2:p.Val429Ile
NM_001142678.1:c.1231G>A	NP_001136150.1:p.Val411Ile
NM_001142679.1:c.1285G>A	NP_001136151.1:p.Val429Ile
NM_001204803.1:c.1348G>A	NP_001191732.1:p.Val450Ile
XM_005268706.3:c.1252G>A	XP_005268763.1:p.Val418Ile
XM_005268707.2:c.1186G>A	XP_005268764.1:p.Val396Ile
XM_011538024.1:c.1348G>A	XP_011536326.1:p.Val450Ile
XR_944888.1:n.1406-9749C>T
XM_005268706.5:c.1252G>A	XP_005268763.1:p.Val418Ile
XM_005268707.4:c.1186G>A	XP_005268764.1:p.Val396Ile
NM_001025356.3:c.1285G>A MANE Select	NP_001020527.2:p.Val429Ile
NM_001142678.2:c.1231G>A	NP_001136150.1:p.Val411Ile
NM_001142679.2:c.1285G>A	NP_001136151.1:p.Val429Ile
NM_001204803.2:c.1348G>A	NP_001191732.1:p.Val450Ile