Canonical Allele Identifier: CA379920522

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22239641C>T , CM000673.2:g.22239641C>T	GRCh38
NC_000011.9:g.22261187C>T , CM000673.1:g.22261187C>T	GRCh37
NC_000011.8:g.22217763C>T	NCBI36
NG_015844.1:g.51466C>T , LRG_868:g.51466C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.835C>T MANE Select	NP_998764.1:p.Arg279Ter
ENST00000324559.9:c.835C>T MANE Select	ENSP00000315371.9:p.Arg279Ter
NM_001142649.1:c.832C>T	NP_001136121.1:p.Arg278Ter
NM_001142649.2:c.832C>T	NP_001136121.1:p.Arg278Ter
NM_213599.2:c.835C>T , LRG_868t1:c.835C>T	NP_998764.1:p.Arg279Ter
ENST00000324559.8:c.835C>T	ENSP00000315371.8:p.Arg279Ter
ENST00000648804.1:n.1214-10596C>T
ENST00000682266.1:c.385C>T	ENSP00000507766.1:p.Arg129Ter
ENST00000682341.1:c.793C>T	ENSP00000508251.1:p.Arg265Ter
ENST00000682530.1:c.*767C>T	ENSP00000506805.1:n.*767C>T
ENST00000682684.1:n.1214C>T
ENST00000683197.1:c.793C>T	ENSP00000507641.1:p.Arg265Ter
ENST00000683411.1:c.385C>T	ENSP00000508397.1:p.Arg129Ter
ENST00000683437.1:c.385C>T	ENSP00000508408.1:p.Arg129Ter
ENST00000683613.1:n.1829C>T
ENST00000683834.1:n.1035C>T
ENST00000684663.1:c.790C>T	ENSP00000508009.1:p.Arg264Ter
XM_005252820.2:c.793C>T	XP_005252877.2:p.Arg265Ter
XM_005252820.3:c.793C>T	XP_005252877.2:p.Arg265Ter
XM_005252821.2:c.790C>T	XP_005252878.2:p.Arg264Ter
XM_005252821.3:c.790C>T	XP_005252878.2:p.Arg264Ter
XM_005252822.3:c.757C>T	XP_005252879.1:p.Arg253Ter
XM_005252822.4:c.757C>T	XP_005252879.1:p.Arg253Ter
XM_005252823.3:c.754C>T	XP_005252880.1:p.Arg252Ter
XM_011519949.1:c.742C>T	XP_011518251.1:p.Arg248Ter
XM_011519949.2:c.742C>T	XP_011518251.1:p.Arg248Ter