Canonical Allele Identifier: CA242241

Gene: ANO5

Linked Data

• ClinVar Variation Id: 195705
• ClinVar RCV Id: RCV000176339 ; RCV000778321 ; RCV000791570 ; RCV001254725 ; RCV003330536
• dbSNP Id: rs781027702
• ExAC: 11:22301090 C / G
• gnomAD v2: 11-22301090-C-G
• gnomAD v3: 11-22279544-C-G
• gnomAD v4: 11-22279544-C-G
• MyVariant Identifiers: chr11:g.22301090C>G (hg19) ; chr11:g.22279544C>G (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22279544C>G , CM000673.2:g.22279544C>G	GRCh38
NC_000011.9:g.22301090C>G , CM000673.1:g.22301090C>G	GRCh37
NC_000011.8:g.22257666C>G	NCBI36
NG_015844.1:g.91369C>G , LRG_868:g.91369C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.2071C>G	ENSP00000507766.1:p.His691Asp
ENST00000682341.1:c.2479C>G	ENSP00000508251.1:p.His827Asp
ENST00000683197.1:c.2373C>G	ENSP00000507641.1:p.Ser791Arg
ENST00000683411.1:c.2071C>G	ENSP00000508397.1:p.His691Asp
ENST00000683437.1:c.2071C>G	ENSP00000508408.1:p.His691Asp
ENST00000683613.1:n.3515C>G
ENST00000684663.1:c.2476C>G	ENSP00000508009.1:p.His826Asp
ENST00000324559.9:c.2521C>G MANE Select	ENSP00000315371.9:p.His841Asp
ENST00000648804.1:n.2856C>G
ENST00000324559.8:c.2521C>G	ENSP00000315371.8:p.His841Asp
NM_001142649.1:c.2518C>G	NP_001136121.1:p.His840Asp
NM_213599.2:c.2521C>G , LRG_868t1:c.2521C>G	NP_998764.1:p.His841Asp
XM_005252820.2:c.2479C>G	XP_005252877.2:p.His827Asp
XM_005252821.2:c.2476C>G	XP_005252878.2:p.His826Asp
XM_005252822.3:c.2443C>G	XP_005252879.1:p.His815Asp
XM_005252823.3:c.2440C>G	XP_005252880.1:p.His814Asp
XM_011519949.1:c.2428C>G	XP_011518251.1:p.His810Asp
XM_005252820.3:c.2479C>G	XP_005252877.2:p.His827Asp
XM_005252821.3:c.2476C>G	XP_005252878.2:p.His826Asp
XM_005252822.4:c.2443C>G	XP_005252879.1:p.His815Asp
XM_011519949.2:c.2428C>G	XP_011518251.1:p.His810Asp
NM_001142649.2:c.2518C>G	NP_001136121.1:p.His840Asp
NM_213599.3:c.2521C>G MANE Select	NP_998764.1:p.His841Asp