Canonical Allele Identifier: CA201762

Gene: ANO5

Linked Data

• ClinVar Variation Id: 96685
• ClinVar RCV Id: RCV000082852 ; RCV000176019 ; RCV000645359
• dbSNP Id: rs398124625
• ExAC: 11:22225349 G / A
• gnomAD v2: 11-22225349-G-A
• gnomAD v3: 11-22203803-G-A
• gnomAD v4: 11-22203803-G-A
• MyVariant Identifiers: chr11:g.22225349G>A (hg19) ; chr11:g.22203803G>A (hg38)
• PubMed: PMID:23607914

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22203803G>A , CM000673.2:g.22203803G>A	GRCh38
NC_000011.9:g.22225349G>A , CM000673.1:g.22225349G>A	GRCh37
NC_000011.8:g.22181925G>A	NCBI36
NG_015844.1:g.15628G>A , LRG_868:g.15628G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.-321-7461G>A	ENSP00000507766.1:n.-321-7461G>A
ENST00000682341.1:c.41-1G>A	ENSP00000508251.1:n.41-1G>A
ENST00000682530.1:c.41-1G>A	ENSP00000506805.1:n.41-1G>A
ENST00000682684.1:n.465-1G>A
ENST00000683197.1:c.41-1G>A	ENSP00000507641.1:n.41-1G>A
ENST00000683411.1:c.-382-7461G>A	ENSP00000508397.1:n.-382-7461G>A
ENST00000683437.1:c.-271+10271G>A	ENSP00000508408.1:n.-271+10271G>A
ENST00000683834.1:n.286-1G>A
ENST00000683897.1:n.327-1G>A
ENST00000684365.1:n.455-1G>A
ENST00000684663.1:c.41-1G>A	ENSP00000508009.1:n.41-1G>A
ENST00000324559.9:c.41-1G>A MANE Select	ENSP00000315371.9:n.41-1G>A
ENST00000648804.1:n.545-1G>A
ENST00000324559.8:c.41-1G>A	ENSP00000315371.8:n.41-1G>A
NM_001142649.1:c.41-1G>A	NP_001136121.1:n.41-1G>A
NM_213599.2:c.41-1G>A , LRG_868t1:c.41-1G>A	NP_998764.1:n.41-1G>A
XM_005252820.2:c.41-1G>A	XP_005252877.2:n.41-1G>A
XM_005252821.2:c.41-1G>A	XP_005252878.2:n.41-1G>A
XM_005252822.3:c.-38-1G>A	XP_005252879.1:n.-38-1G>A
XM_005252823.3:c.-38-1G>A	XP_005252880.1:n.-38-1G>A
XM_011519949.1:c.41-1G>A	XP_011518251.1:n.41-1G>A
XM_005252820.3:c.41-1G>A	XP_005252877.2:n.41-1G>A
XM_005252821.3:c.41-1G>A	XP_005252878.2:n.41-1G>A
XM_005252822.4:c.-38-1G>A	XP_005252879.1:n.-38-1G>A
XM_011519949.2:c.41-1G>A	XP_011518251.1:n.41-1G>A
NM_001142649.2:c.41-1G>A	NP_001136121.1:n.41-1G>A
NM_213599.3:c.41-1G>A MANE Select	NP_998764.1:n.41-1G>A