Canonical Allele Identifier: CA218775842

Gene: ANO5

Linked Data

• ClinVar Variation Id: 536730
• ClinVar RCV Id: RCV000645356 ; RCV000729727
• dbSNP Id: rs926233739
• gnomAD v2: 11-22294417-G-A
• gnomAD v3: 11-22272871-G-A
• gnomAD v4: 11-22272871-G-A
• COSMIC: COSM2112579
• MyVariant Identifiers: chr11:g.22294417G>A (hg19) ; chr11:g.22272871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272871G>A , CM000673.2:g.22272871G>A	GRCh38
NC_000011.9:g.22294417G>A , CM000673.1:g.22294417G>A	GRCh37
NC_000011.8:g.22250993G>A	NCBI36
NG_015844.1:g.84696G>A , LRG_868:g.84696G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.134G>A
ENST00000682266.1:c.1667G>A	ENSP00000507766.1:p.Arg556Gln
ENST00000682341.1:c.2075G>A	ENSP00000508251.1:p.Arg692Gln
ENST00000683197.1:c.2075G>A	ENSP00000507641.1:p.Arg692Gln
ENST00000683411.1:c.1667G>A	ENSP00000508397.1:p.Arg556Gln
ENST00000683437.1:c.1667G>A	ENSP00000508408.1:p.Arg556Gln
ENST00000683613.1:n.3111G>A
ENST00000684663.1:c.2072G>A	ENSP00000508009.1:p.Arg691Gln
ENST00000324559.9:c.2117G>A MANE Select	ENSP00000315371.9:p.Arg706Gln
ENST00000648804.1:n.2452G>A
ENST00000324559.8:c.2117G>A	ENSP00000315371.8:p.Arg706Gln
ENST00000532043.1:n.134G>A
NM_001142649.1:c.2114G>A	NP_001136121.1:p.Arg705Gln
NM_213599.2:c.2117G>A , LRG_868t1:c.2117G>A	NP_998764.1:p.Arg706Gln
XM_005252820.2:c.2075G>A	XP_005252877.2:p.Arg692Gln
XM_005252821.2:c.2072G>A	XP_005252878.2:p.Arg691Gln
XM_005252822.3:c.2039G>A	XP_005252879.1:p.Arg680Gln
XM_005252823.3:c.2036G>A	XP_005252880.1:p.Arg679Gln
XM_011519949.1:c.2024G>A	XP_011518251.1:p.Arg675Gln
XM_005252820.3:c.2075G>A	XP_005252877.2:p.Arg692Gln
XM_005252821.3:c.2072G>A	XP_005252878.2:p.Arg691Gln
XM_005252822.4:c.2039G>A	XP_005252879.1:p.Arg680Gln
XM_011519949.2:c.2024G>A	XP_011518251.1:p.Arg675Gln
NM_001142649.2:c.2114G>A	NP_001136121.1:p.Arg705Gln
NM_213599.3:c.2117G>A MANE Select	NP_998764.1:p.Arg706Gln