Canonical Allele Identifier: CA6524991

Gene: ANO6

Linked Data

• ClinVar Variation Id: 257146
• ClinVar RCV Id: RCV000245280 ; RCV002518591
• dbSNP Id: rs2162321
• ExAC: 12:45741847 G / A
• gnomAD v2: 12-45741847-G-A
• gnomAD v3: 12-45348064-G-A
• gnomAD v4: 12-45348064-G-A
• MyVariant Identifiers: chr12:g.45741847G>A (hg19) ; chr12:g.45348064G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45348064G>A , CM000674.2:g.45348064G>A	GRCh38
NC_000012.11:g.45741847G>A , CM000674.1:g.45741847G>A	GRCh37
NC_000012.10:g.44028114G>A	NCBI36
NG_028220.1:g.137078G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320560.13:c.382G>A MANE Select	ENSP00000320087.8:p.Ala128Thr
ENST00000679426.1:c.349G>A	ENSP00000506600.1:p.Ala117Thr
ENST00000679761.1:c.382G>A	ENSP00000505361.1:p.Ala128Thr
ENST00000680201.1:c.382G>A	ENSP00000506222.1:p.Ala128Thr
ENST00000680371.1:c.382G>A	ENSP00000506392.1:p.Ala128Thr
ENST00000680498.1:c.-36G>A	ENSP00000506613.1:n.-36G>A
ENST00000681156.1:c.382G>A	ENSP00000506069.1:p.Ala128Thr
ENST00000681817.1:c.-36G>A	ENSP00000506683.1:n.-36G>A
ENST00000320560.12:c.382G>A	ENSP00000320087.8:p.Ala128Thr
ENST00000423947.7:c.445G>A	ENSP00000409126.3:p.Ala149Thr
ENST00000425752.6:c.382G>A	ENSP00000391417.2:p.Ala128Thr
ENST00000426898.2:n.637G>A
ENST00000441606.2:c.328G>A	ENSP00000413137.2:p.Ala110Thr
NM_001025356.2:c.382G>A	NP_001020527.2:p.Ala128Thr
NM_001142678.1:c.328G>A	NP_001136150.1:p.Ala110Thr
NM_001142679.1:c.382G>A	NP_001136151.1:p.Ala128Thr
NM_001204803.1:c.445G>A	NP_001191732.1:p.Ala149Thr
XM_005268706.3:c.349G>A	XP_005268763.1:p.Ala117Thr
XM_005268707.2:c.283G>A	XP_005268764.1:p.Ala95Thr
XM_011538024.1:c.445G>A	XP_011536326.1:p.Ala149Thr
XM_005268706.5:c.349G>A	XP_005268763.1:p.Ala117Thr
XM_005268707.4:c.283G>A	XP_005268764.1:p.Ala95Thr
NM_001025356.3:c.382G>A MANE Select	NP_001020527.2:p.Ala128Thr
NM_001142678.2:c.328G>A	NP_001136150.1:p.Ala110Thr
NM_001142679.2:c.382G>A	NP_001136151.1:p.Ala128Thr
NM_001204803.2:c.445G>A	NP_001191732.1:p.Ala149Thr