Canonical Allele Identifier: CA5923087

Gene: ANO5

Linked Data

• ClinVar Variation Id: 468848
• ClinVar RCV Id: RCV000529030 ; RCV000732282
• dbSNP Id: rs200553437
• ExAC: 11:22271898 A / G
• gnomAD v2: 11-22271898-A-G
• gnomAD v3: 11-22250352-A-G
• gnomAD v4: 11-22250352-A-G
• MyVariant Identifiers: chr11:g.22271898A>G (hg19) ; chr11:g.22250352A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250352A>G , CM000673.2:g.22250352A>G	GRCh38
NC_000011.9:g.22271898A>G , CM000673.1:g.22271898A>G	GRCh37
NC_000011.8:g.22228474A>G	NCBI36
NG_015844.1:g.62177A>G , LRG_868:g.62177A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.314A>G
ENST00000682266.1:c.544A>G	ENSP00000507766.1:p.Met182Val
ENST00000682341.1:c.952A>G	ENSP00000508251.1:p.Met318Val
ENST00000682530.1:c.*926A>G	ENSP00000506805.1:n.*926A>G
ENST00000683197.1:c.952A>G	ENSP00000507641.1:p.Met318Val
ENST00000683411.1:c.544A>G	ENSP00000508397.1:p.Met182Val
ENST00000683437.1:c.544A>G	ENSP00000508408.1:p.Met182Val
ENST00000683613.1:n.1988A>G
ENST00000683834.1:n.1194A>G
ENST00000684663.1:c.949A>G	ENSP00000508009.1:p.Met317Val
ENST00000324559.9:c.994A>G MANE Select	ENSP00000315371.9:p.Met332Val
ENST00000648804.1:n.1329A>G
ENST00000324559.8:c.994A>G	ENSP00000315371.8:p.Met332Val
NM_001142649.1:c.991A>G	NP_001136121.1:p.Met331Val
NM_213599.2:c.994A>G , LRG_868t1:c.994A>G	NP_998764.1:p.Met332Val
XM_005252820.2:c.952A>G	XP_005252877.2:p.Met318Val
XM_005252821.2:c.949A>G	XP_005252878.2:p.Met317Val
XM_005252822.3:c.916A>G	XP_005252879.1:p.Met306Val
XM_005252823.3:c.913A>G	XP_005252880.1:p.Met305Val
XM_011519949.1:c.901A>G	XP_011518251.1:p.Met301Val
XM_005252820.3:c.952A>G	XP_005252877.2:p.Met318Val
XM_005252821.3:c.949A>G	XP_005252878.2:p.Met317Val
XM_005252822.4:c.916A>G	XP_005252879.1:p.Met306Val
XM_011519949.2:c.901A>G	XP_011518251.1:p.Met301Val
NM_001142649.2:c.991A>G	NP_001136121.1:p.Met331Val
NM_213599.3:c.994A>G MANE Select	NP_998764.1:p.Met332Val