Canonical Allele Identifier: CA224417

Gene: ANO5

Linked Data

• ClinVar Variation Id: 96683
• ClinVar RCV Id: RCV000082850 ; RCV001480649
• dbSNP Id: rs398124624
• ExAC: 11:22248840 T / A
• gnomAD v2: 11-22248840-T-A
• gnomAD v3: 11-22227294-T-A
• gnomAD v4: 11-22227294-T-A
• MyVariant Identifiers: chr11:g.22248840T>A (hg19) ; chr11:g.22227294T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22227294T>A , CM000673.2:g.22227294T>A	GRCh38
NC_000011.9:g.22248840T>A , CM000673.1:g.22248840T>A	GRCh37
NC_000011.8:g.22205416T>A	NCBI36
NG_015844.1:g.39119T>A , LRG_868:g.39119T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.-87-8T>A	ENSP00000507766.1:n.-87-8T>A
ENST00000682341.1:c.322-8T>A	ENSP00000508251.1:n.322-8T>A
ENST00000682530.1:c.*296-8T>A	ENSP00000506805.1:n.*296-8T>A
ENST00000682684.1:n.743-8T>A
ENST00000683197.1:c.322-8T>A	ENSP00000507641.1:n.322-8T>A
ENST00000683411.1:c.-87-8T>A	ENSP00000508397.1:n.-87-8T>A
ENST00000683437.1:c.-87-8T>A	ENSP00000508408.1:n.-87-8T>A
ENST00000683613.1:n.1358-8T>A
ENST00000683834.1:n.564-8T>A
ENST00000684663.1:c.319-8T>A	ENSP00000508009.1:n.319-8T>A
ENST00000324559.9:c.364-8T>A MANE Select	ENSP00000315371.9:n.364-8T>A
ENST00000648804.1:n.929-8T>A
ENST00000324559.8:c.364-8T>A	ENSP00000315371.8:n.364-8T>A
NM_001142649.1:c.361-8T>A	NP_001136121.1:n.361-8T>A
NM_213599.2:c.364-8T>A , LRG_868t1:c.364-8T>A	NP_998764.1:n.364-8T>A
XM_005252820.2:c.322-8T>A	XP_005252877.2:n.322-8T>A
XM_005252821.2:c.319-8T>A	XP_005252878.2:n.319-8T>A
XM_005252822.3:c.286-8T>A	XP_005252879.1:n.286-8T>A
XM_005252823.3:c.283-8T>A	XP_005252880.1:n.283-8T>A
XM_011519949.1:c.271-8T>A	XP_011518251.1:n.271-8T>A
XM_005252820.3:c.322-8T>A	XP_005252877.2:n.322-8T>A
XM_005252821.3:c.319-8T>A	XP_005252878.2:n.319-8T>A
XM_005252822.4:c.286-8T>A	XP_005252879.1:n.286-8T>A
XM_011519949.2:c.271-8T>A	XP_011518251.1:n.271-8T>A
NM_001142649.2:c.361-8T>A	NP_001136121.1:n.361-8T>A
NM_213599.3:c.364-8T>A MANE Select	NP_998764.1:n.364-8T>A