Canonical Allele Identifier: CA379920342

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22236272A>G , CM000673.2:g.22236272A>G	GRCh38
NC_000011.9:g.22257818A>G , CM000673.1:g.22257818A>G	GRCh37
NC_000011.8:g.22214394A>G	NCBI36
NG_015844.1:g.48097A>G , LRG_868:g.48097A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.758A>G MANE Select	NP_998764.1:p.His253Arg
ENST00000324559.9:c.758A>G MANE Select	ENSP00000315371.9:p.His253Arg
NM_001142649.1:c.755A>G	NP_001136121.1:p.His252Arg
NM_001142649.2:c.755A>G	NP_001136121.1:p.His252Arg
NM_213599.2:c.758A>G , LRG_868t1:c.758A>G	NP_998764.1:p.His253Arg
ENST00000324559.8:c.758A>G	ENSP00000315371.8:p.His253Arg
ENST00000648804.1:n.1213+8686A>G
ENST00000682266.1:c.308A>G	ENSP00000507766.1:p.His103Arg
ENST00000682341.1:c.716A>G	ENSP00000508251.1:p.His239Arg
ENST00000682530.1:c.*690A>G	ENSP00000506805.1:n.*690A>G
ENST00000682684.1:n.1137A>G
ENST00000683197.1:c.716A>G	ENSP00000507641.1:p.His239Arg
ENST00000683411.1:c.308A>G	ENSP00000508397.1:p.His103Arg
ENST00000683437.1:c.308A>G	ENSP00000508408.1:p.His103Arg
ENST00000683613.1:n.1752A>G
ENST00000683834.1:n.958A>G
ENST00000684663.1:c.713A>G	ENSP00000508009.1:p.His238Arg
XM_005252820.2:c.716A>G	XP_005252877.2:p.His239Arg
XM_005252820.3:c.716A>G	XP_005252877.2:p.His239Arg
XM_005252821.2:c.713A>G	XP_005252878.2:p.His238Arg
XM_005252821.3:c.713A>G	XP_005252878.2:p.His238Arg
XM_005252822.3:c.680A>G	XP_005252879.1:p.His227Arg
XM_005252822.4:c.680A>G	XP_005252879.1:p.His227Arg
XM_005252823.3:c.677A>G	XP_005252880.1:p.His226Arg
XM_011519949.1:c.665A>G	XP_011518251.1:p.His222Arg
XM_011519949.2:c.665A>G	XP_011518251.1:p.His222Arg