Canonical Allele Identifier: CA218744001

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22239580G>A , CM000673.2:g.22239580G>A	GRCh38
NC_000011.9:g.22261126G>A , CM000673.1:g.22261126G>A	GRCh37
NC_000011.8:g.22217702G>A	NCBI36
NG_015844.1:g.51405G>A , LRG_868:g.51405G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.774G>A MANE Select	NP_998764.1:p.Trp258Ter
ENST00000324559.9:c.774G>A MANE Select	ENSP00000315371.9:p.Trp258Ter
NM_001142649.1:c.771G>A	NP_001136121.1:p.Trp257Ter
NM_001142649.2:c.771G>A	NP_001136121.1:p.Trp257Ter
NM_213599.2:c.774G>A , LRG_868t1:c.774G>A	NP_998764.1:p.Trp258Ter
ENST00000324559.8:c.774G>A	ENSP00000315371.8:p.Trp258Ter
ENST00000648804.1:n.1214-10657G>A
ENST00000682266.1:c.324G>A	ENSP00000507766.1:p.Trp108Ter
ENST00000682341.1:c.732G>A	ENSP00000508251.1:p.Trp244Ter
ENST00000682530.1:c.*706G>A	ENSP00000506805.1:n.*706G>A
ENST00000682684.1:n.1153G>A
ENST00000683197.1:c.732G>A	ENSP00000507641.1:p.Trp244Ter
ENST00000683411.1:c.324G>A	ENSP00000508397.1:p.Trp108Ter
ENST00000683437.1:c.324G>A	ENSP00000508408.1:p.Trp108Ter
ENST00000683613.1:n.1768G>A
ENST00000683834.1:n.974G>A
ENST00000684663.1:c.729G>A	ENSP00000508009.1:p.Trp243Ter
XM_005252820.2:c.732G>A	XP_005252877.2:p.Trp244Ter
XM_005252820.3:c.732G>A	XP_005252877.2:p.Trp244Ter
XM_005252821.2:c.729G>A	XP_005252878.2:p.Trp243Ter
XM_005252821.3:c.729G>A	XP_005252878.2:p.Trp243Ter
XM_005252822.3:c.696G>A	XP_005252879.1:p.Trp232Ter
XM_005252822.4:c.696G>A	XP_005252879.1:p.Trp232Ter
XM_005252823.3:c.693G>A	XP_005252880.1:p.Trp231Ter
XM_011519949.1:c.681G>A	XP_011518251.1:p.Trp227Ter
XM_011519949.2:c.681G>A	XP_011518251.1:p.Trp227Ter