Canonical Allele Identifier: CA379922243

Gene: ANO5

Linked Data

• ClinVar Variation Id: 1007980
• ClinVar RCV Id: RCV001305242 ; RCV003135945
• dbSNP Id: rs1354557357
• gnomAD v2: 11-22281191-A-G
• gnomAD v4: 11-22259645-A-G
• MyVariant Identifiers: chr11:g.22281191A>G (hg19) ; chr11:g.22259645A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259645A>G , CM000673.2:g.22259645A>G	GRCh38
NC_000011.9:g.22281191A>G , CM000673.1:g.22281191A>G	GRCh37
NC_000011.8:g.22237767A>G	NCBI36
NG_015844.1:g.71470A>G , LRG_868:g.71470A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1084A>G	ENSP00000507766.1:p.Ile362Val
ENST00000682341.1:c.1492A>G	ENSP00000508251.1:p.Ile498Val
ENST00000683197.1:c.1492A>G	ENSP00000507641.1:p.Ile498Val
ENST00000683411.1:c.1084A>G	ENSP00000508397.1:p.Ile362Val
ENST00000683437.1:c.1084A>G	ENSP00000508408.1:p.Ile362Val
ENST00000683613.1:n.2528A>G
ENST00000684663.1:c.1489A>G	ENSP00000508009.1:p.Ile497Val
ENST00000324559.9:c.1534A>G MANE Select	ENSP00000315371.9:p.Ile512Val
ENST00000648804.1:n.1869A>G
ENST00000324559.8:c.1534A>G	ENSP00000315371.8:p.Ile512Val
NM_001142649.1:c.1531A>G	NP_001136121.1:p.Ile511Val
NM_213599.2:c.1534A>G , LRG_868t1:c.1534A>G	NP_998764.1:p.Ile512Val
XM_005252820.2:c.1492A>G	XP_005252877.2:p.Ile498Val
XM_005252821.2:c.1489A>G	XP_005252878.2:p.Ile497Val
XM_005252822.3:c.1456A>G	XP_005252879.1:p.Ile486Val
XM_005252823.3:c.1453A>G	XP_005252880.1:p.Ile485Val
XM_011519949.1:c.1441A>G	XP_011518251.1:p.Ile481Val
XM_005252820.3:c.1492A>G	XP_005252877.2:p.Ile498Val
XM_005252821.3:c.1489A>G	XP_005252878.2:p.Ile497Val
XM_005252822.4:c.1456A>G	XP_005252879.1:p.Ile486Val
XM_011519949.2:c.1441A>G	XP_011518251.1:p.Ile481Val
NM_001142649.2:c.1531A>G	NP_001136121.1:p.Ile511Val
NM_213599.3:c.1534A>G MANE Select	NP_998764.1:p.Ile512Val