Canonical Allele Identifier: CA5923047

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22239642G>A , CM000673.2:g.22239642G>A	GRCh38
NC_000011.9:g.22261188G>A , CM000673.1:g.22261188G>A	GRCh37
NC_000011.8:g.22217764G>A	NCBI36
NG_015844.1:g.51467G>A , LRG_868:g.51467G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.836G>A MANE Select	NP_998764.1:p.Arg279Gln
ENST00000324559.9:c.836G>A MANE Select	ENSP00000315371.9:p.Arg279Gln
NM_001142649.1:c.833G>A	NP_001136121.1:p.Arg278Gln
NM_001142649.2:c.833G>A	NP_001136121.1:p.Arg278Gln
NM_213599.2:c.836G>A , LRG_868t1:c.836G>A	NP_998764.1:p.Arg279Gln
ENST00000324559.8:c.836G>A	ENSP00000315371.8:p.Arg279Gln
ENST00000648804.1:n.1214-10595G>A
ENST00000682266.1:c.386G>A	ENSP00000507766.1:p.Arg129Gln
ENST00000682341.1:c.794G>A	ENSP00000508251.1:p.Arg265Gln
ENST00000682530.1:c.*768G>A	ENSP00000506805.1:n.*768G>A
ENST00000682684.1:n.1215G>A
ENST00000683197.1:c.794G>A	ENSP00000507641.1:p.Arg265Gln
ENST00000683411.1:c.386G>A	ENSP00000508397.1:p.Arg129Gln
ENST00000683437.1:c.386G>A	ENSP00000508408.1:p.Arg129Gln
ENST00000683613.1:n.1830G>A
ENST00000683834.1:n.1036G>A
ENST00000684663.1:c.791G>A	ENSP00000508009.1:p.Arg264Gln
XM_005252820.2:c.794G>A	XP_005252877.2:p.Arg265Gln
XM_005252820.3:c.794G>A	XP_005252877.2:p.Arg265Gln
XM_005252821.2:c.791G>A	XP_005252878.2:p.Arg264Gln
XM_005252821.3:c.791G>A	XP_005252878.2:p.Arg264Gln
XM_005252822.3:c.758G>A	XP_005252879.1:p.Arg253Gln
XM_005252822.4:c.758G>A	XP_005252879.1:p.Arg253Gln
XM_005252823.3:c.755G>A	XP_005252880.1:p.Arg252Gln
XM_011519949.1:c.743G>A	XP_011518251.1:p.Arg248Gln
XM_011519949.2:c.743G>A	XP_011518251.1:p.Arg248Gln