Canonical Allele Identifier: CA210044

Gene: ANO5

Linked Data

• ClinVar Variation Id: 217144
• ClinVar RCV Id: RCV000201014 ; RCV000725769 ; RCV000823520
• dbSNP Id: rs372221490
• ExAC: 11:22257823 G / A
• gnomAD v2: 11-22257823-G-A
• gnomAD v3: 11-22236277-G-A
• gnomAD v4: 11-22236277-G-A
• MyVariant Identifiers: chr11:g.22257823G>A (hg19) ; chr11:g.22236277G>A (hg38)
• PubMed: PMID:23606453

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22236277G>A , CM000673.2:g.22236277G>A	GRCh38
NC_000011.9:g.22257823G>A , CM000673.1:g.22257823G>A	GRCh37
NC_000011.8:g.22214399G>A	NCBI36
NG_015844.1:g.48102G>A , LRG_868:g.48102G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.312+1G>A	ENSP00000507766.1:n.312+1G>A
ENST00000682341.1:c.720+1G>A	ENSP00000508251.1:n.720+1G>A
ENST00000682530.1:c.*694+1G>A	ENSP00000506805.1:n.*694+1G>A
ENST00000682684.1:n.1141+1G>A
ENST00000683197.1:c.720+1G>A	ENSP00000507641.1:n.720+1G>A
ENST00000683411.1:c.312+1G>A	ENSP00000508397.1:n.312+1G>A
ENST00000683437.1:c.312+1G>A	ENSP00000508408.1:n.312+1G>A
ENST00000683613.1:n.1756+1G>A
ENST00000683834.1:n.962+1G>A
ENST00000684663.1:c.717+1G>A	ENSP00000508009.1:n.717+1G>A
ENST00000324559.9:c.762+1G>A MANE Select	ENSP00000315371.9:n.762+1G>A
ENST00000648804.1:n.1213+8691G>A
ENST00000324559.8:c.762+1G>A	ENSP00000315371.8:n.762+1G>A
NM_001142649.1:c.759+1G>A	NP_001136121.1:n.759+1G>A
NM_213599.2:c.762+1G>A , LRG_868t1:c.762+1G>A	NP_998764.1:n.762+1G>A
XM_005252820.2:c.720+1G>A	XP_005252877.2:n.720+1G>A
XM_005252821.2:c.717+1G>A	XP_005252878.2:n.717+1G>A
XM_005252822.3:c.684+1G>A	XP_005252879.1:n.684+1G>A
XM_005252823.3:c.681+1G>A	XP_005252880.1:n.681+1G>A
XM_011519949.1:c.669+1G>A	XP_011518251.1:n.669+1G>A
XM_005252820.3:c.720+1G>A	XP_005252877.2:n.720+1G>A
XM_005252821.3:c.717+1G>A	XP_005252878.2:n.717+1G>A
XM_005252822.4:c.684+1G>A	XP_005252879.1:n.684+1G>A
XM_011519949.2:c.669+1G>A	XP_011518251.1:n.669+1G>A
NM_001142649.2:c.759+1G>A	NP_001136121.1:n.759+1G>A
NM_213599.3:c.762+1G>A MANE Select	NP_998764.1:n.762+1G>A