Canonical Allele Identifier: CA473405082

Gene: ANO5

Linked Data

• dbSNP Id: rs1218929080
• gnomAD v2: 11-22281196-C-A
• gnomAD v4: 11-22259650-C-A
• MyVariant Identifiers: chr11:g.22281196C>A (hg19) ; chr11:g.22259650C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259650C>A , CM000673.2:g.22259650C>A	GRCh38
NC_000011.9:g.22281196C>A , CM000673.1:g.22281196C>A	GRCh37
NC_000011.8:g.22237772C>A	NCBI36
NG_015844.1:g.71475C>A , LRG_868:g.71475C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1089C>A	ENSP00000507766.1:p.Thr363=
ENST00000682341.1:c.1497C>A	ENSP00000508251.1:p.Thr499=
ENST00000683197.1:c.1497C>A	ENSP00000507641.1:p.Thr499=
ENST00000683411.1:c.1089C>A	ENSP00000508397.1:p.Thr363=
ENST00000683437.1:c.1089C>A	ENSP00000508408.1:p.Thr363=
ENST00000683613.1:n.2533C>A
ENST00000684663.1:c.1494C>A	ENSP00000508009.1:p.Thr498=
ENST00000324559.9:c.1539C>A MANE Select	ENSP00000315371.9:p.Thr513=
ENST00000648804.1:n.1874C>A
ENST00000324559.8:c.1539C>A	ENSP00000315371.8:p.Thr513=
NM_001142649.1:c.1536C>A	NP_001136121.1:p.Thr512=
NM_213599.2:c.1539C>A , LRG_868t1:c.1539C>A	NP_998764.1:p.Thr513=
XM_005252820.2:c.1497C>A	XP_005252877.2:p.Thr499=
XM_005252821.2:c.1494C>A	XP_005252878.2:p.Thr498=
XM_005252822.3:c.1461C>A	XP_005252879.1:p.Thr487=
XM_005252823.3:c.1458C>A	XP_005252880.1:p.Thr486=
XM_011519949.1:c.1446C>A	XP_011518251.1:p.Thr482=
XM_005252820.3:c.1497C>A	XP_005252877.2:p.Thr499=
XM_005252821.3:c.1494C>A	XP_005252878.2:p.Thr498=
XM_005252822.4:c.1461C>A	XP_005252879.1:p.Thr487=
XM_011519949.2:c.1446C>A	XP_011518251.1:p.Thr482=
NM_001142649.2:c.1536C>A	NP_001136121.1:p.Thr512=
NM_213599.3:c.1539C>A MANE Select	NP_998764.1:p.Thr513=