Canonical Allele Identifier: CA2841054020

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250416T>A , CM000673.2:g.22250416T>A	GRCh38
NC_000011.9:g.22271962T>A , CM000673.1:g.22271962T>A	GRCh37
NC_000011.8:g.22228538T>A	NCBI36
NG_015844.1:g.62241T>A , LRG_868:g.62241T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.333+45T>A
ENST00000682266.1:c.563+45T>A	ENSP00000507766.1:n.563+45T>A
ENST00000682341.1:c.971+45T>A	ENSP00000508251.1:n.971+45T>A
ENST00000682530.1:c.*945+45T>A	ENSP00000506805.1:n.*945+45T>A
ENST00000683197.1:c.971+45T>A	ENSP00000507641.1:n.971+45T>A
ENST00000683411.1:c.563+45T>A	ENSP00000508397.1:n.563+45T>A
ENST00000683437.1:c.563+45T>A	ENSP00000508408.1:n.563+45T>A
ENST00000683613.1:n.2007+45T>A
ENST00000683834.1:n.1213+45T>A
ENST00000684663.1:c.968+45T>A	ENSP00000508009.1:n.968+45T>A
ENST00000324559.9:c.1013+45T>A MANE Select	ENSP00000315371.9:n.1013+45T>A
ENST00000648804.1:n.1348+45T>A
ENST00000324559.8:c.1013+45T>A	ENSP00000315371.8:n.1013+45T>A
NM_001142649.1:c.1010+45T>A	NP_001136121.1:n.1010+45T>A
NM_213599.2:c.1013+45T>A , LRG_868t1:c.1013+45T>A	NP_998764.1:n.1013+45T>A
XM_005252820.2:c.971+45T>A	XP_005252877.2:n.971+45T>A
XM_005252821.2:c.968+45T>A	XP_005252878.2:n.968+45T>A
XM_005252822.3:c.935+45T>A	XP_005252879.1:n.935+45T>A
XM_005252823.3:c.932+45T>A	XP_005252880.1:n.932+45T>A
XM_011519949.1:c.920+45T>A	XP_011518251.1:n.920+45T>A
XM_005252820.3:c.971+45T>A	XP_005252877.2:n.971+45T>A
XM_005252821.3:c.968+45T>A	XP_005252878.2:n.968+45T>A
XM_005252822.4:c.935+45T>A	XP_005252879.1:n.935+45T>A
XM_011519949.2:c.920+45T>A	XP_011518251.1:n.920+45T>A
NM_001142649.2:c.1010+45T>A	NP_001136121.1:n.1010+45T>A
NM_213599.3:c.1013+45T>A MANE Select	NP_998764.1:n.1013+45T>A