Canonical Allele Identifier: CA5923119

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250769G>A , CM000673.2:g.22250769G>A	GRCh38
NC_000011.9:g.22272315G>A , CM000673.1:g.22272315G>A	GRCh37
NC_000011.8:g.22228891G>A	NCBI36
NG_015844.1:g.62594G>A , LRG_868:g.62594G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.1042G>A MANE Select	NP_998764.1:p.Gly348Ser
ENST00000324559.9:c.1042G>A MANE Select	ENSP00000315371.9:p.Gly348Ser
NM_001142649.1:c.1039G>A	NP_001136121.1:p.Gly347Ser
NM_001142649.2:c.1039G>A	NP_001136121.1:p.Gly347Ser
NM_213599.2:c.1042G>A , LRG_868t1:c.1042G>A	NP_998764.1:p.Gly348Ser
ENST00000324559.8:c.1042G>A	ENSP00000315371.8:p.Gly348Ser
ENST00000648804.1:n.1377G>A
ENST00000682089.1:n.362G>A
ENST00000682266.1:c.592G>A	ENSP00000507766.1:p.Gly198Ser
ENST00000682341.1:c.1000G>A	ENSP00000508251.1:p.Gly334Ser
ENST00000682530.1:c.*974G>A	ENSP00000506805.1:n.*974G>A
ENST00000683197.1:c.1000G>A	ENSP00000507641.1:p.Gly334Ser
ENST00000683411.1:c.592G>A	ENSP00000508397.1:p.Gly198Ser
ENST00000683437.1:c.592G>A	ENSP00000508408.1:p.Gly198Ser
ENST00000683613.1:n.2036G>A
ENST00000683834.1:n.1242G>A
ENST00000684663.1:c.997G>A	ENSP00000508009.1:p.Gly333Ser
XM_005252820.2:c.1000G>A	XP_005252877.2:p.Gly334Ser
XM_005252820.3:c.1000G>A	XP_005252877.2:p.Gly334Ser
XM_005252821.2:c.997G>A	XP_005252878.2:p.Gly333Ser
XM_005252821.3:c.997G>A	XP_005252878.2:p.Gly333Ser
XM_005252822.3:c.964G>A	XP_005252879.1:p.Gly322Ser
XM_005252822.4:c.964G>A	XP_005252879.1:p.Gly322Ser
XM_005252823.3:c.961G>A	XP_005252880.1:p.Gly321Ser
XM_011519949.1:c.949G>A	XP_011518251.1:p.Gly317Ser
XM_011519949.2:c.949G>A	XP_011518251.1:p.Gly317Ser