Canonical Allele Identifier: CA224411

Gene: ANO5

Linked Data

• ClinVar Variation Id: 96679
• ClinVar RCV Id: RCV000082846 ; RCV001377409
• dbSNP Id: rs199501657
• ExAC: 11:22242704 A / G
• gnomAD v2: 11-22242704-A-G
• gnomAD v3: 11-22221158-A-G
• gnomAD v4: 11-22221158-A-G
• MyVariant Identifiers: chr11:g.22242704A>G (hg19) ; chr11:g.22221158A>G (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22221158A>G , CM000673.2:g.22221158A>G	GRCh38
NC_000011.9:g.22242704A>G , CM000673.1:g.22242704A>G	GRCh37
NC_000011.8:g.22199280A>G	NCBI36
NG_015844.1:g.32983A>G , LRG_868:g.32983A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.-209A>G	ENSP00000507766.1:n.-209A>G
ENST00000682341.1:c.200A>G	ENSP00000508251.1:p.Asp67Gly
ENST00000682530.1:c.*174A>G	ENSP00000506805.1:n.*174A>G
ENST00000682684.1:n.621A>G
ENST00000683197.1:c.200A>G	ENSP00000507641.1:p.Asp67Gly
ENST00000683411.1:c.-209A>G	ENSP00000508397.1:n.-209A>G
ENST00000683437.1:c.-209A>G	ENSP00000508408.1:n.-209A>G
ENST00000683613.1:n.1236A>G
ENST00000683834.1:n.442A>G
ENST00000683897.1:n.486A>G
ENST00000684365.1:n.611A>G
ENST00000684663.1:c.197A>G	ENSP00000508009.1:p.Asp66Gly
ENST00000324559.9:c.242A>G MANE Select	ENSP00000315371.9:p.Asp81Gly
ENST00000648804.1:n.807A>G
ENST00000324559.8:c.242A>G	ENSP00000315371.8:p.Asp81Gly
NM_001142649.1:c.239A>G	NP_001136121.1:p.Asp80Gly
NM_213599.2:c.242A>G , LRG_868t1:c.242A>G	NP_998764.1:p.Asp81Gly
XM_005252820.2:c.200A>G	XP_005252877.2:p.Asp67Gly
XM_005252821.2:c.197A>G	XP_005252878.2:p.Asp66Gly
XM_005252822.3:c.164A>G	XP_005252879.1:p.Asp55Gly
XM_005252823.3:c.161A>G	XP_005252880.1:p.Asp54Gly
XM_011519949.1:c.149A>G	XP_011518251.1:p.Asp50Gly
XM_005252820.3:c.200A>G	XP_005252877.2:p.Asp67Gly
XM_005252821.3:c.197A>G	XP_005252878.2:p.Asp66Gly
XM_005252822.4:c.164A>G	XP_005252879.1:p.Asp55Gly
XM_011519949.2:c.149A>G	XP_011518251.1:p.Asp50Gly
NM_001142649.2:c.239A>G	NP_001136121.1:p.Asp80Gly
NM_213599.3:c.242A>G MANE Select	NP_998764.1:p.Asp81Gly