Canonical Allele Identifier: CA473407657

Gene: ANO5

Linked Data

• dbSNP Id: rs1564951457
• gnomAD v4: 11-22272971-C-A
• MyVariant Identifiers: chr11:g.22294517C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272971C>A , CM000673.2:g.22272971C>A	GRCh38
NC_000011.9:g.22294517C>A , CM000673.1:g.22294517C>A	GRCh37
NC_000011.8:g.22251093C>A	NCBI36
NG_015844.1:g.84796C>A , LRG_868:g.84796C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.234C>A
ENST00000682266.1:c.1767C>A	ENSP00000507766.1:p.Val589=
ENST00000682341.1:c.2175C>A	ENSP00000508251.1:p.Val725=
ENST00000683197.1:c.2175C>A	ENSP00000507641.1:p.Val725=
ENST00000683411.1:c.1767C>A	ENSP00000508397.1:p.Val589=
ENST00000683437.1:c.1767C>A	ENSP00000508408.1:p.Val589=
ENST00000683613.1:n.3211C>A
ENST00000684663.1:c.2172C>A	ENSP00000508009.1:p.Val724=
ENST00000324559.9:c.2217C>A MANE Select	ENSP00000315371.9:p.Val739=
ENST00000648804.1:n.2552C>A
ENST00000324559.8:c.2217C>A	ENSP00000315371.8:p.Val739=
ENST00000532043.1:n.234C>A
NM_001142649.1:c.2214C>A	NP_001136121.1:p.Val738=
NM_213599.2:c.2217C>A , LRG_868t1:c.2217C>A	NP_998764.1:p.Val739=
XM_005252820.2:c.2175C>A	XP_005252877.2:p.Val725=
XM_005252821.2:c.2172C>A	XP_005252878.2:p.Val724=
XM_005252822.3:c.2139C>A	XP_005252879.1:p.Val713=
XM_005252823.3:c.2136C>A	XP_005252880.1:p.Val712=
XM_011519949.1:c.2124C>A	XP_011518251.1:p.Val708=
XM_005252820.3:c.2175C>A	XP_005252877.2:p.Val725=
XM_005252821.3:c.2172C>A	XP_005252878.2:p.Val724=
XM_005252822.4:c.2139C>A	XP_005252879.1:p.Val713=
XM_011519949.2:c.2124C>A	XP_011518251.1:p.Val708=
NM_001142649.2:c.2214C>A	NP_001136121.1:p.Val738=
NM_213599.3:c.2217C>A MANE Select	NP_998764.1:p.Val739=