Canonical Allele Identifier: CA5922846

Gene: ANO5

Linked Data

• ClinVar Variation Id: 282497
• ClinVar RCV Id: RCV000296622 ; RCV000710578 ; RCV000988501 ; RCV001086686 ; RCV001108716
• dbSNP Id: rs34994927
• ExAC: 11:22242721 G / A
• gnomAD v2: 11-22242721-G-A
• gnomAD v3: 11-22221175-G-A
• gnomAD v4: 11-22221175-G-A
• MyVariant Identifiers: chr11:g.22242721G>A (hg19) ; chr11:g.22221175G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22221175G>A , CM000673.2:g.22221175G>A	GRCh38
NC_000011.9:g.22242721G>A , CM000673.1:g.22242721G>A	GRCh37
NC_000011.8:g.22199297G>A	NCBI36
NG_015844.1:g.33000G>A , LRG_868:g.33000G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.-192G>A	ENSP00000507766.1:n.-192G>A
ENST00000682341.1:c.217G>A	ENSP00000508251.1:p.Val73Ile
ENST00000682530.1:c.*191G>A	ENSP00000506805.1:n.*191G>A
ENST00000682684.1:n.638G>A
ENST00000683197.1:c.217G>A	ENSP00000507641.1:p.Val73Ile
ENST00000683411.1:c.-192G>A	ENSP00000508397.1:n.-192G>A
ENST00000683437.1:c.-192G>A	ENSP00000508408.1:n.-192G>A
ENST00000683613.1:n.1253G>A
ENST00000683834.1:n.459G>A
ENST00000683897.1:n.503G>A
ENST00000684365.1:n.628G>A
ENST00000684663.1:c.214G>A	ENSP00000508009.1:p.Val72Ile
ENST00000324559.9:c.259G>A MANE Select	ENSP00000315371.9:p.Val87Ile
ENST00000648804.1:n.824G>A
ENST00000324559.8:c.259G>A	ENSP00000315371.8:p.Val87Ile
NM_001142649.1:c.256G>A	NP_001136121.1:p.Val86Ile
NM_213599.2:c.259G>A , LRG_868t1:c.259G>A	NP_998764.1:p.Val87Ile
XM_005252820.2:c.217G>A	XP_005252877.2:p.Val73Ile
XM_005252821.2:c.214G>A	XP_005252878.2:p.Val72Ile
XM_005252822.3:c.181G>A	XP_005252879.1:p.Val61Ile
XM_005252823.3:c.178G>A	XP_005252880.1:p.Val60Ile
XM_011519949.1:c.166G>A	XP_011518251.1:p.Val56Ile
XM_005252820.3:c.217G>A	XP_005252877.2:p.Val73Ile
XM_005252821.3:c.214G>A	XP_005252878.2:p.Val72Ile
XM_005252822.4:c.181G>A	XP_005252879.1:p.Val61Ile
XM_011519949.2:c.166G>A	XP_011518251.1:p.Val56Ile
NM_001142649.2:c.256G>A	NP_001136121.1:p.Val86Ile
NM_213599.3:c.259G>A MANE Select	NP_998764.1:p.Val87Ile