Canonical Allele Identifier: CA218752958

Gene: ANO5

Linked Data

• dbSNP Id: rs1021140192
• gnomAD v4: 11-22250370-A-G
• MyVariant Identifiers: chr11:g.22271916A>G (hg19) ; chr11:g.22250370A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250370A>G , CM000673.2:g.22250370A>G	GRCh38
NC_000011.9:g.22271916A>G , CM000673.1:g.22271916A>G	GRCh37
NC_000011.8:g.22228492A>G	NCBI36
NG_015844.1:g.62195A>G , LRG_868:g.62195A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.332A>G
ENST00000682266.1:c.562A>G	ENSP00000507766.1:p.Ser188Gly
ENST00000682341.1:c.970A>G	ENSP00000508251.1:p.Ser324Gly
ENST00000682530.1:c.*944A>G	ENSP00000506805.1:n.*944A>G
ENST00000683197.1:c.970A>G	ENSP00000507641.1:p.Ser324Gly
ENST00000683411.1:c.562A>G	ENSP00000508397.1:p.Ser188Gly
ENST00000683437.1:c.562A>G	ENSP00000508408.1:p.Ser188Gly
ENST00000683613.1:n.2006A>G
ENST00000683834.1:n.1212A>G
ENST00000684663.1:c.967A>G	ENSP00000508009.1:p.Ser323Gly
ENST00000324559.9:c.1012A>G MANE Select	ENSP00000315371.9:p.Ser338Gly
ENST00000648804.1:n.1347A>G
ENST00000324559.8:c.1012A>G	ENSP00000315371.8:p.Ser338Gly
NM_001142649.1:c.1009A>G	NP_001136121.1:p.Ser337Gly
NM_213599.2:c.1012A>G , LRG_868t1:c.1012A>G	NP_998764.1:p.Ser338Gly
XM_005252820.2:c.970A>G	XP_005252877.2:p.Ser324Gly
XM_005252821.2:c.967A>G	XP_005252878.2:p.Ser323Gly
XM_005252822.3:c.934A>G	XP_005252879.1:p.Ser312Gly
XM_005252823.3:c.931A>G	XP_005252880.1:p.Ser311Gly
XM_011519949.1:c.919A>G	XP_011518251.1:p.Ser307Gly
XM_005252820.3:c.970A>G	XP_005252877.2:p.Ser324Gly
XM_005252821.3:c.967A>G	XP_005252878.2:p.Ser323Gly
XM_005252822.4:c.934A>G	XP_005252879.1:p.Ser312Gly
XM_011519949.2:c.919A>G	XP_011518251.1:p.Ser307Gly
NM_001142649.2:c.1009A>G	NP_001136121.1:p.Ser337Gly
NM_213599.3:c.1012A>G MANE Select	NP_998764.1:p.Ser338Gly