Canonical Allele Identifier: CA379921328

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22251010G>A , CM000673.2:g.22251010G>A	GRCh38
NC_000011.9:g.22272556G>A , CM000673.1:g.22272556G>A	GRCh37
NC_000011.8:g.22229132G>A	NCBI36
NG_015844.1:g.62835G>A , LRG_868:g.62835G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.1179G>A MANE Select	NP_998764.1:p.Trp393Ter
ENST00000324559.9:c.1179G>A MANE Select	ENSP00000315371.9:p.Trp393Ter
NM_001142649.1:c.1176G>A	NP_001136121.1:p.Trp392Ter
NM_001142649.2:c.1176G>A	NP_001136121.1:p.Trp392Ter
NM_213599.2:c.1179G>A , LRG_868t1:c.1179G>A	NP_998764.1:p.Trp393Ter
ENST00000324559.8:c.1179G>A	ENSP00000315371.8:p.Trp393Ter
ENST00000648804.1:n.1514G>A
ENST00000682089.1:n.499G>A
ENST00000682266.1:c.729G>A	ENSP00000507766.1:p.Trp243Ter
ENST00000682341.1:c.1137G>A	ENSP00000508251.1:p.Trp379Ter
ENST00000682530.1:c.*1111G>A	ENSP00000506805.1:n.*1111G>A
ENST00000683197.1:c.1137G>A	ENSP00000507641.1:p.Trp379Ter
ENST00000683411.1:c.729G>A	ENSP00000508397.1:p.Trp243Ter
ENST00000683437.1:c.729G>A	ENSP00000508408.1:p.Trp243Ter
ENST00000683613.1:n.2173G>A
ENST00000683834.1:n.1379G>A
ENST00000684663.1:c.1134G>A	ENSP00000508009.1:p.Trp378Ter
XM_005252820.2:c.1137G>A	XP_005252877.2:p.Trp379Ter
XM_005252820.3:c.1137G>A	XP_005252877.2:p.Trp379Ter
XM_005252821.2:c.1134G>A	XP_005252878.2:p.Trp378Ter
XM_005252821.3:c.1134G>A	XP_005252878.2:p.Trp378Ter
XM_005252822.3:c.1101G>A	XP_005252879.1:p.Trp367Ter
XM_005252822.4:c.1101G>A	XP_005252879.1:p.Trp367Ter
XM_005252823.3:c.1098G>A	XP_005252880.1:p.Trp366Ter
XM_011519949.1:c.1086G>A	XP_011518251.1:p.Trp362Ter
XM_011519949.2:c.1086G>A	XP_011518251.1:p.Trp362Ter