Canonical Allele Identifier: CA6525022

Gene: ANO6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45348259G>T , CM000674.2:g.45348259G>T	GRCh38
NC_000012.11:g.45742042G>T , CM000674.1:g.45742042G>T	GRCh37
NC_000012.10:g.44028309G>T	NCBI36
NG_028220.1:g.137273G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320560.13:c.577G>T MANE Select	ENSP00000320087.8:p.Asp193Tyr
ENST00000679426.1:c.544G>T	ENSP00000506600.1:p.Asp182Tyr
ENST00000679761.1:c.577G>T	ENSP00000505361.1:p.Asp193Tyr
ENST00000680201.1:c.577G>T	ENSP00000506222.1:p.Asp193Tyr
ENST00000680371.1:c.577G>T	ENSP00000506392.1:p.Asp193Tyr
ENST00000680498.1:c.160G>T	ENSP00000506613.1:p.Asp54Tyr
ENST00000681156.1:c.577G>T	ENSP00000506069.1:p.Asp193Tyr
ENST00000681817.1:c.160G>T	ENSP00000506683.1:p.Asp54Tyr
ENST00000320560.12:c.577G>T	ENSP00000320087.8:p.Asp193Tyr
ENST00000423947.7:c.640G>T	ENSP00000409126.3:p.Asp214Tyr
ENST00000425752.6:c.577G>T	ENSP00000391417.2:p.Asp193Tyr
ENST00000426898.2:n.832G>T
ENST00000441606.2:c.523G>T	ENSP00000413137.2:p.Asp175Tyr
NM_001025356.2:c.577G>T	NP_001020527.2:p.Asp193Tyr
NM_001142678.1:c.523G>T	NP_001136150.1:p.Asp175Tyr
NM_001142679.1:c.577G>T	NP_001136151.1:p.Asp193Tyr
NM_001204803.1:c.640G>T	NP_001191732.1:p.Asp214Tyr
XM_005268706.3:c.544G>T	XP_005268763.1:p.Asp182Tyr
XM_005268707.2:c.478G>T	XP_005268764.1:p.Asp160Tyr
XM_011538024.1:c.640G>T	XP_011536326.1:p.Asp214Tyr
XM_005268706.5:c.544G>T	XP_005268763.1:p.Asp182Tyr
XM_005268707.4:c.478G>T	XP_005268764.1:p.Asp160Tyr
NM_001025356.3:c.577G>T MANE Select	NP_001020527.2:p.Asp193Tyr
NM_001142678.2:c.523G>T	NP_001136150.1:p.Asp175Tyr
NM_001142679.2:c.577G>T	NP_001136151.1:p.Asp193Tyr
NM_001204803.2:c.640G>T	NP_001191732.1:p.Asp214Tyr