Canonical Allele Identifier: CA5923514

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22274606G>A , CM000673.2:g.22274606G>A	GRCh38
NC_000011.9:g.22296152G>A , CM000673.1:g.22296152G>A	GRCh37
NC_000011.8:g.22252728G>A	NCBI36
NG_015844.1:g.86431G>A , LRG_868:g.86431G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.2273G>A MANE Select	NP_998764.1:p.Arg758His
ENST00000324559.9:c.2273G>A MANE Select	ENSP00000315371.9:p.Arg758His
NM_001142649.1:c.2270G>A	NP_001136121.1:p.Arg757His
NM_001142649.2:c.2270G>A	NP_001136121.1:p.Arg757His
NM_213599.2:c.2273G>A , LRG_868t1:c.2273G>A	NP_998764.1:p.Arg758His
ENST00000324559.8:c.2273G>A	ENSP00000315371.8:p.Arg758His
ENST00000532043.1:n.290G>A
ENST00000532043.2:n.290G>A
ENST00000648804.1:n.2608G>A
ENST00000682266.1:c.1823G>A	ENSP00000507766.1:p.Arg608His
ENST00000682341.1:c.2231G>A	ENSP00000508251.1:p.Arg744His
ENST00000683197.1:c.2231G>A	ENSP00000507641.1:p.Arg744His
ENST00000683411.1:c.1823G>A	ENSP00000508397.1:p.Arg608His
ENST00000683437.1:c.1823G>A	ENSP00000508408.1:p.Arg608His
ENST00000683613.1:n.3267G>A
ENST00000684663.1:c.2228G>A	ENSP00000508009.1:p.Arg743His
XM_005252820.2:c.2231G>A	XP_005252877.2:p.Arg744His
XM_005252820.3:c.2231G>A	XP_005252877.2:p.Arg744His
XM_005252821.2:c.2228G>A	XP_005252878.2:p.Arg743His
XM_005252821.3:c.2228G>A	XP_005252878.2:p.Arg743His
XM_005252822.3:c.2195G>A	XP_005252879.1:p.Arg732His
XM_005252822.4:c.2195G>A	XP_005252879.1:p.Arg732His
XM_005252823.3:c.2192G>A	XP_005252880.1:p.Arg731His
XM_011519949.1:c.2180G>A	XP_011518251.1:p.Arg727His
XM_011519949.2:c.2180G>A	XP_011518251.1:p.Arg727His