Canonical Allele Identifier: CA5922947

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22227505A>G , CM000673.2:g.22227505A>G	GRCh38
NC_000011.9:g.22249051A>G , CM000673.1:g.22249051A>G	GRCh37
NC_000011.8:g.22205627A>G	NCBI36
NG_015844.1:g.39330A>G , LRG_868:g.39330A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.567A>G MANE Select	NP_998764.1:p.Ala189=
ENST00000324559.9:c.567A>G MANE Select	ENSP00000315371.9:p.Ala189=
NM_001142649.1:c.564A>G	NP_001136121.1:p.Ala188=
NM_001142649.2:c.564A>G	NP_001136121.1:p.Ala188=
NM_213599.2:c.567A>G , LRG_868t1:c.567A>G	NP_998764.1:p.Ala189=
ENST00000324559.8:c.567A>G	ENSP00000315371.8:p.Ala189=
ENST00000648804.1:n.1132A>G
ENST00000682266.1:c.117A>G	ENSP00000507766.1:p.Ala39=
ENST00000682341.1:c.525A>G	ENSP00000508251.1:p.Ala175=
ENST00000682530.1:c.*499A>G	ENSP00000506805.1:n.*499A>G
ENST00000682684.1:n.946A>G
ENST00000683197.1:c.525A>G	ENSP00000507641.1:p.Ala175=
ENST00000683411.1:c.117A>G	ENSP00000508397.1:p.Ala39=
ENST00000683437.1:c.117A>G	ENSP00000508408.1:p.Ala39=
ENST00000683613.1:n.1561A>G
ENST00000683834.1:n.767A>G
ENST00000684663.1:c.522A>G	ENSP00000508009.1:p.Ala174=
XM_005252820.2:c.525A>G	XP_005252877.2:p.Ala175=
XM_005252820.3:c.525A>G	XP_005252877.2:p.Ala175=
XM_005252821.2:c.522A>G	XP_005252878.2:p.Ala174=
XM_005252821.3:c.522A>G	XP_005252878.2:p.Ala174=
XM_005252822.3:c.489A>G	XP_005252879.1:p.Ala163=
XM_005252822.4:c.489A>G	XP_005252879.1:p.Ala163=
XM_005252823.3:c.486A>G	XP_005252880.1:p.Ala162=
XM_011519949.1:c.474A>G	XP_011518251.1:p.Ala158=
XM_011519949.2:c.474A>G	XP_011518251.1:p.Ala158=