Canonical Allele Identifier: CA473407565

Gene: ANO5

Linked Data

• dbSNP Id: rs1175604459
• gnomAD v2: 11-22294460-A-G
• gnomAD v4: 11-22272914-A-G
• MyVariant Identifiers: chr11:g.22294460A>G (hg19) ; chr11:g.22272914A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272914A>G , CM000673.2:g.22272914A>G	GRCh38
NC_000011.9:g.22294460A>G , CM000673.1:g.22294460A>G	GRCh37
NC_000011.8:g.22251036A>G	NCBI36
NG_015844.1:g.84739A>G , LRG_868:g.84739A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.177A>G
ENST00000682266.1:c.1710A>G	ENSP00000507766.1:p.Val570=
ENST00000682341.1:c.2118A>G	ENSP00000508251.1:p.Val706=
ENST00000683197.1:c.2118A>G	ENSP00000507641.1:p.Val706=
ENST00000683411.1:c.1710A>G	ENSP00000508397.1:p.Val570=
ENST00000683437.1:c.1710A>G	ENSP00000508408.1:p.Val570=
ENST00000683613.1:n.3154A>G
ENST00000684663.1:c.2115A>G	ENSP00000508009.1:p.Val705=
ENST00000324559.9:c.2160A>G MANE Select	ENSP00000315371.9:p.Val720=
ENST00000648804.1:n.2495A>G
ENST00000324559.8:c.2160A>G	ENSP00000315371.8:p.Val720=
ENST00000532043.1:n.177A>G
NM_001142649.1:c.2157A>G	NP_001136121.1:p.Val719=
NM_213599.2:c.2160A>G , LRG_868t1:c.2160A>G	NP_998764.1:p.Val720=
XM_005252820.2:c.2118A>G	XP_005252877.2:p.Val706=
XM_005252821.2:c.2115A>G	XP_005252878.2:p.Val705=
XM_005252822.3:c.2082A>G	XP_005252879.1:p.Val694=
XM_005252823.3:c.2079A>G	XP_005252880.1:p.Val693=
XM_011519949.1:c.2067A>G	XP_011518251.1:p.Val689=
XM_005252820.3:c.2118A>G	XP_005252877.2:p.Val706=
XM_005252821.3:c.2115A>G	XP_005252878.2:p.Val705=
XM_005252822.4:c.2082A>G	XP_005252879.1:p.Val694=
XM_011519949.2:c.2067A>G	XP_011518251.1:p.Val689=
NM_001142649.2:c.2157A>G	NP_001136121.1:p.Val719=
NM_213599.3:c.2160A>G MANE Select	NP_998764.1:p.Val720=