Canonical Allele Identifier: CA379921005

Gene: ANO5

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.1042G>T MANE Select	NP_998764.1:p.Gly348Cys
ENST00000324559.9:c.1042G>T MANE Select	ENSP00000315371.9:p.Gly348Cys
NM_001142649.1:c.1039G>T	NP_001136121.1:p.Gly347Cys
NM_001142649.2:c.1039G>T	NP_001136121.1:p.Gly347Cys
NM_213599.2:c.1042G>T , LRG_868t1:c.1042G>T	NP_998764.1:p.Gly348Cys
ENST00000324559.8:c.1042G>T	ENSP00000315371.8:p.Gly348Cys
ENST00000648804.1:n.1377G>T
ENST00000682089.1:n.362G>T
ENST00000682266.1:c.592G>T	ENSP00000507766.1:p.Gly198Cys
ENST00000682341.1:c.1000G>T	ENSP00000508251.1:p.Gly334Cys
ENST00000682530.1:c.*974G>T	ENSP00000506805.1:n.*974G>T
ENST00000683197.1:c.1000G>T	ENSP00000507641.1:p.Gly334Cys
ENST00000683411.1:c.592G>T	ENSP00000508397.1:p.Gly198Cys
ENST00000683437.1:c.592G>T	ENSP00000508408.1:p.Gly198Cys
ENST00000683613.1:n.2036G>T
ENST00000683834.1:n.1242G>T
ENST00000684663.1:c.997G>T	ENSP00000508009.1:p.Gly333Cys
XM_005252820.2:c.1000G>T	XP_005252877.2:p.Gly334Cys
XM_005252820.3:c.1000G>T	XP_005252877.2:p.Gly334Cys
XM_005252821.2:c.997G>T	XP_005252878.2:p.Gly333Cys
XM_005252821.3:c.997G>T	XP_005252878.2:p.Gly333Cys
XM_005252822.3:c.964G>T	XP_005252879.1:p.Gly322Cys
XM_005252822.4:c.964G>T	XP_005252879.1:p.Gly322Cys
XM_005252823.3:c.961G>T	XP_005252880.1:p.Gly321Cys
XM_011519949.1:c.949G>T	XP_011518251.1:p.Gly317Cys
XM_011519949.2:c.949G>T	XP_011518251.1:p.Gly317Cys