Canonical Allele Identifier: CA379925230

Gene: ANO5

Linked Data

• ClinVar Variation Id: 2930579
• ClinVar RCV Id: RCV003789889
• dbSNP Id: rs1187547198
• gnomAD v2: 11-22242673-A-G
• gnomAD v4: 11-22221127-A-G
• MyVariant Identifiers: chr11:g.22242673A>G (hg19) ; chr11:g.22221127A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22221127A>G , CM000673.2:g.22221127A>G	GRCh38
NC_000011.9:g.22242673A>G , CM000673.1:g.22242673A>G	GRCh37
NC_000011.8:g.22199249A>G	NCBI36
NG_015844.1:g.32952A>G , LRG_868:g.32952A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.-240A>G	ENSP00000507766.1:n.-240A>G
ENST00000682341.1:c.169A>G	ENSP00000508251.1:p.Ile57Val
ENST00000682530.1:c.*143A>G	ENSP00000506805.1:n.*143A>G
ENST00000682684.1:n.590A>G
ENST00000683197.1:c.169A>G	ENSP00000507641.1:p.Ile57Val
ENST00000683411.1:c.-240A>G	ENSP00000508397.1:n.-240A>G
ENST00000683437.1:c.-240A>G	ENSP00000508408.1:n.-240A>G
ENST00000683613.1:n.1205A>G
ENST00000683834.1:n.411A>G
ENST00000683897.1:n.455A>G
ENST00000684365.1:n.580A>G
ENST00000684663.1:c.166A>G	ENSP00000508009.1:p.Ile56Val
ENST00000324559.9:c.211A>G MANE Select	ENSP00000315371.9:p.Ile71Val
ENST00000648804.1:n.776A>G
ENST00000324559.8:c.211A>G	ENSP00000315371.8:p.Ile71Val
NM_001142649.1:c.208A>G	NP_001136121.1:p.Ile70Val
NM_213599.2:c.211A>G , LRG_868t1:c.211A>G	NP_998764.1:p.Ile71Val
XM_005252820.2:c.169A>G	XP_005252877.2:p.Ile57Val
XM_005252821.2:c.166A>G	XP_005252878.2:p.Ile56Val
XM_005252822.3:c.133A>G	XP_005252879.1:p.Ile45Val
XM_005252823.3:c.130A>G	XP_005252880.1:p.Ile44Val
XM_011519949.1:c.118A>G	XP_011518251.1:p.Ile40Val
XM_005252820.3:c.169A>G	XP_005252877.2:p.Ile57Val
XM_005252821.3:c.166A>G	XP_005252878.2:p.Ile56Val
XM_005252822.4:c.133A>G	XP_005252879.1:p.Ile45Val
XM_011519949.2:c.118A>G	XP_011518251.1:p.Ile40Val
NM_001142649.2:c.208A>G	NP_001136121.1:p.Ile70Val
NM_213599.3:c.211A>G MANE Select	NP_998764.1:p.Ile71Val