Canonical Allele Identifier: CA5923220

Gene: ANO5

Linked Data

• ClinVar Variation Id: 286009
• ClinVar RCV Id: RCV000286387
• dbSNP Id: rs538243103
• ExAC: 11:22279217 A / G
• gnomAD v2: 11-22279217-A-G
• gnomAD v3: 11-22257671-A-G
• gnomAD v4: 11-22257671-A-G
• MyVariant Identifiers: chr11:g.22279217A>G (hg19) ; chr11:g.22257671A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22257671A>G , CM000673.2:g.22257671A>G	GRCh38
NC_000011.9:g.22279217A>G , CM000673.1:g.22279217A>G	GRCh37
NC_000011.8:g.22235793A>G	NCBI36
NG_015844.1:g.69496A>G , LRG_868:g.69496A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.883-9A>G	ENSP00000507766.1:n.883-9A>G
ENST00000682341.1:c.1291-9A>G	ENSP00000508251.1:n.1291-9A>G
ENST00000683197.1:c.1291-9A>G	ENSP00000507641.1:n.1291-9A>G
ENST00000683411.1:c.883-9A>G	ENSP00000508397.1:n.883-9A>G
ENST00000683437.1:c.883-9A>G	ENSP00000508408.1:n.883-9A>G
ENST00000683613.1:n.2327-9A>G
ENST00000684663.1:c.1288-9A>G	ENSP00000508009.1:n.1288-9A>G
ENST00000324559.9:c.1333-9A>G MANE Select	ENSP00000315371.9:n.1333-9A>G
ENST00000648804.1:n.1668-9A>G
ENST00000324559.8:c.1333-9A>G	ENSP00000315371.8:n.1333-9A>G
NM_001142649.1:c.1330-9A>G	NP_001136121.1:n.1330-9A>G
NM_213599.2:c.1333-9A>G , LRG_868t1:c.1333-9A>G	NP_998764.1:n.1333-9A>G
XM_005252820.2:c.1291-9A>G	XP_005252877.2:n.1291-9A>G
XM_005252821.2:c.1288-9A>G	XP_005252878.2:n.1288-9A>G
XM_005252822.3:c.1255-9A>G	XP_005252879.1:n.1255-9A>G
XM_005252823.3:c.1252-9A>G	XP_005252880.1:n.1252-9A>G
XM_011519949.1:c.1240-9A>G	XP_011518251.1:n.1240-9A>G
XM_005252820.3:c.1291-9A>G	XP_005252877.2:n.1291-9A>G
XM_005252821.3:c.1288-9A>G	XP_005252878.2:n.1288-9A>G
XM_005252822.4:c.1255-9A>G	XP_005252879.1:n.1255-9A>G
XM_011519949.2:c.1240-9A>G	XP_011518251.1:n.1240-9A>G
NM_001142649.2:c.1330-9A>G	NP_001136121.1:n.1330-9A>G
NM_213599.3:c.1333-9A>G MANE Select	NP_998764.1:n.1333-9A>G