Canonical Allele Identifier: CA218768059

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22262244C>T , CM000673.2:g.22262244C>T	GRCh38
NC_000011.9:g.22283790C>T , CM000673.1:g.22283790C>T	GRCh37
NC_000011.8:g.22240366C>T	NCBI36
NG_015844.1:g.74069C>T , LRG_868:g.74069C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.1746C>T MANE Select	NP_998764.1:p.Phe582=
ENST00000324559.9:c.1746C>T MANE Select	ENSP00000315371.9:p.Phe582=
NM_001142649.1:c.1743C>T	NP_001136121.1:p.Phe581=
NM_001142649.2:c.1743C>T	NP_001136121.1:p.Phe581=
NM_213599.2:c.1746C>T , LRG_868t1:c.1746C>T	NP_998764.1:p.Phe582=
ENST00000324559.8:c.1746C>T	ENSP00000315371.8:p.Phe582=
ENST00000648804.1:n.2081C>T
ENST00000682266.1:c.1296C>T	ENSP00000507766.1:p.Phe432=
ENST00000682341.1:c.1704C>T	ENSP00000508251.1:p.Phe568=
ENST00000683197.1:c.1704C>T	ENSP00000507641.1:p.Phe568=
ENST00000683411.1:c.1296C>T	ENSP00000508397.1:p.Phe432=
ENST00000683437.1:c.1296C>T	ENSP00000508408.1:p.Phe432=
ENST00000683613.1:n.2740C>T
ENST00000684663.1:c.1701C>T	ENSP00000508009.1:p.Phe567=
XM_005252820.2:c.1704C>T	XP_005252877.2:p.Phe568=
XM_005252820.3:c.1704C>T	XP_005252877.2:p.Phe568=
XM_005252821.2:c.1701C>T	XP_005252878.2:p.Phe567=
XM_005252821.3:c.1701C>T	XP_005252878.2:p.Phe567=
XM_005252822.3:c.1668C>T	XP_005252879.1:p.Phe556=
XM_005252822.4:c.1668C>T	XP_005252879.1:p.Phe556=
XM_005252823.3:c.1665C>T	XP_005252880.1:p.Phe555=
XM_011519949.1:c.1653C>T	XP_011518251.1:p.Phe551=
XM_011519949.2:c.1653C>T	XP_011518251.1:p.Phe551=