Canonical Allele Identifier: CA10605538

Gene: ANO5

Linked Data

• ClinVar Variation Id: 286698
• ClinVar RCV Id: RCV000261799 ; RCV001859653
• dbSNP Id: rs886043450
• gnomAD v4: 11-22272898-A-G
• MyVariant Identifiers: chr11:g.22294444A>G (hg19) ; chr11:g.22272898A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272898A>G , CM000673.2:g.22272898A>G	GRCh38
NC_000011.9:g.22294444A>G , CM000673.1:g.22294444A>G	GRCh37
NC_000011.8:g.22251020A>G	NCBI36
NG_015844.1:g.84723A>G , LRG_868:g.84723A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.161A>G
ENST00000682266.1:c.1694A>G	ENSP00000507766.1:p.Gln565Arg
ENST00000682341.1:c.2102A>G	ENSP00000508251.1:p.Gln701Arg
ENST00000683197.1:c.2102A>G	ENSP00000507641.1:p.Gln701Arg
ENST00000683411.1:c.1694A>G	ENSP00000508397.1:p.Gln565Arg
ENST00000683437.1:c.1694A>G	ENSP00000508408.1:p.Gln565Arg
ENST00000683613.1:n.3138A>G
ENST00000684663.1:c.2099A>G	ENSP00000508009.1:p.Gln700Arg
ENST00000324559.9:c.2144A>G MANE Select	ENSP00000315371.9:p.Gln715Arg
ENST00000648804.1:n.2479A>G
ENST00000324559.8:c.2144A>G	ENSP00000315371.8:p.Gln715Arg
ENST00000532043.1:n.161A>G
NM_001142649.1:c.2141A>G	NP_001136121.1:p.Gln714Arg
NM_213599.2:c.2144A>G , LRG_868t1:c.2144A>G	NP_998764.1:p.Gln715Arg
XM_005252820.2:c.2102A>G	XP_005252877.2:p.Gln701Arg
XM_005252821.2:c.2099A>G	XP_005252878.2:p.Gln700Arg
XM_005252822.3:c.2066A>G	XP_005252879.1:p.Gln689Arg
XM_005252823.3:c.2063A>G	XP_005252880.1:p.Gln688Arg
XM_011519949.1:c.2051A>G	XP_011518251.1:p.Gln684Arg
XM_005252820.3:c.2102A>G	XP_005252877.2:p.Gln701Arg
XM_005252821.3:c.2099A>G	XP_005252878.2:p.Gln700Arg
XM_005252822.4:c.2066A>G	XP_005252879.1:p.Gln689Arg
XM_011519949.2:c.2051A>G	XP_011518251.1:p.Gln684Arg
NM_001142649.2:c.2141A>G	NP_001136121.1:p.Gln714Arg
NM_213599.3:c.2144A>G MANE Select	NP_998764.1:p.Gln715Arg