Canonical Allele Identifier: CA218741182

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22236193G>A , CM000673.2:g.22236193G>A	GRCh38
NC_000011.9:g.22257739G>A , CM000673.1:g.22257739G>A	GRCh37
NC_000011.8:g.22214315G>A	NCBI36
NG_015844.1:g.48018G>A , LRG_868:g.48018G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.679G>A MANE Select	NP_998764.1:p.Gly227Ser
ENST00000324559.9:c.679G>A MANE Select	ENSP00000315371.9:p.Gly227Ser
NM_001142649.1:c.676G>A	NP_001136121.1:p.Gly226Ser
NM_001142649.2:c.676G>A	NP_001136121.1:p.Gly226Ser
NM_213599.2:c.679G>A , LRG_868t1:c.679G>A	NP_998764.1:p.Gly227Ser
ENST00000324559.8:c.679G>A	ENSP00000315371.8:p.Gly227Ser
ENST00000648804.1:n.1213+8607G>A
ENST00000682266.1:c.229G>A	ENSP00000507766.1:p.Gly77Ser
ENST00000682341.1:c.637G>A	ENSP00000508251.1:p.Gly213Ser
ENST00000682530.1:c.*611G>A	ENSP00000506805.1:n.*611G>A
ENST00000682684.1:n.1058G>A
ENST00000683197.1:c.637G>A	ENSP00000507641.1:p.Gly213Ser
ENST00000683411.1:c.229G>A	ENSP00000508397.1:p.Gly77Ser
ENST00000683437.1:c.229G>A	ENSP00000508408.1:p.Gly77Ser
ENST00000683613.1:n.1673G>A
ENST00000683834.1:n.879G>A
ENST00000684663.1:c.634G>A	ENSP00000508009.1:p.Gly212Ser
XM_005252820.2:c.637G>A	XP_005252877.2:p.Gly213Ser
XM_005252820.3:c.637G>A	XP_005252877.2:p.Gly213Ser
XM_005252821.2:c.634G>A	XP_005252878.2:p.Gly212Ser
XM_005252821.3:c.634G>A	XP_005252878.2:p.Gly212Ser
XM_005252822.3:c.601G>A	XP_005252879.1:p.Gly201Ser
XM_005252822.4:c.601G>A	XP_005252879.1:p.Gly201Ser
XM_005252823.3:c.598G>A	XP_005252880.1:p.Gly200Ser
XM_011519949.1:c.586G>A	XP_011518251.1:p.Gly196Ser
XM_011519949.2:c.586G>A	XP_011518251.1:p.Gly196Ser