Canonical Allele Identifier: CA379920393

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22239581A>T , CM000673.2:g.22239581A>T	GRCh38
NC_000011.9:g.22261127A>T , CM000673.1:g.22261127A>T	GRCh37
NC_000011.8:g.22217703A>T	NCBI36
NG_015844.1:g.51406A>T , LRG_868:g.51406A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.775A>T MANE Select	NP_998764.1:p.Lys259Ter
ENST00000324559.9:c.775A>T MANE Select	ENSP00000315371.9:p.Lys259Ter
NM_001142649.1:c.772A>T	NP_001136121.1:p.Lys258Ter
NM_001142649.2:c.772A>T	NP_001136121.1:p.Lys258Ter
NM_213599.2:c.775A>T , LRG_868t1:c.775A>T	NP_998764.1:p.Lys259Ter
ENST00000324559.8:c.775A>T	ENSP00000315371.8:p.Lys259Ter
ENST00000648804.1:n.1214-10656A>T
ENST00000682266.1:c.325A>T	ENSP00000507766.1:p.Lys109Ter
ENST00000682341.1:c.733A>T	ENSP00000508251.1:p.Lys245Ter
ENST00000682530.1:c.*707A>T	ENSP00000506805.1:n.*707A>T
ENST00000682684.1:n.1154A>T
ENST00000683197.1:c.733A>T	ENSP00000507641.1:p.Lys245Ter
ENST00000683411.1:c.325A>T	ENSP00000508397.1:p.Lys109Ter
ENST00000683437.1:c.325A>T	ENSP00000508408.1:p.Lys109Ter
ENST00000683613.1:n.1769A>T
ENST00000683834.1:n.975A>T
ENST00000684663.1:c.730A>T	ENSP00000508009.1:p.Lys244Ter
XM_005252820.2:c.733A>T	XP_005252877.2:p.Lys245Ter
XM_005252820.3:c.733A>T	XP_005252877.2:p.Lys245Ter
XM_005252821.2:c.730A>T	XP_005252878.2:p.Lys244Ter
XM_005252821.3:c.730A>T	XP_005252878.2:p.Lys244Ter
XM_005252822.3:c.697A>T	XP_005252879.1:p.Lys233Ter
XM_005252822.4:c.697A>T	XP_005252879.1:p.Lys233Ter
XM_005252823.3:c.694A>T	XP_005252880.1:p.Lys232Ter
XM_011519949.1:c.682A>T	XP_011518251.1:p.Lys228Ter
XM_011519949.2:c.682A>T	XP_011518251.1:p.Lys228Ter