Canonical Allele Identifier: CA379921105
Community Standard Title: NM_213599.3(ANO5):c.1086T>A (p.Tyr362Ter)
Gene: ANO5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22250813T>A , CM000673.2:g.22250813T>A GRCh38
NC_000011.9:g.22272359T>A , CM000673.1:g.22272359T>A GRCh37
NC_000011.8:g.22228935T>A NCBI36
NG_015844.1:g.62638T>A , LRG_868:g.62638T>A

Transcript Alleles

HGVS Amino-acid Change
NM_213599.3:c.1086T>A MANE Select NP_998764.1:p.Tyr362Ter
ENST00000324559.9:c.1086T>A MANE Select ENSP00000315371.9:p.Tyr362Ter
NM_001142649.1:c.1083T>A NP_001136121.1:p.Tyr361Ter
NM_001142649.2:c.1083T>A NP_001136121.1:p.Tyr361Ter
NM_213599.2:c.1086T>A , LRG_868t1:c.1086T>A NP_998764.1:p.Tyr362Ter
ENST00000324559.8:c.1086T>A ENSP00000315371.8:p.Tyr362Ter
ENST00000648804.1:n.1421T>A
ENST00000682089.1:n.406T>A
ENST00000682266.1:c.636T>A ENSP00000507766.1:p.Tyr212Ter
ENST00000682341.1:c.1044T>A ENSP00000508251.1:p.Tyr348Ter
ENST00000682530.1:c.*1018T>A ENSP00000506805.1:n.*1018T>A
ENST00000683197.1:c.1044T>A ENSP00000507641.1:p.Tyr348Ter
ENST00000683411.1:c.636T>A ENSP00000508397.1:p.Tyr212Ter
ENST00000683437.1:c.636T>A ENSP00000508408.1:p.Tyr212Ter
ENST00000683613.1:n.2080T>A
ENST00000683834.1:n.1286T>A
ENST00000684663.1:c.1041T>A ENSP00000508009.1:p.Tyr347Ter
XM_005252820.2:c.1044T>A XP_005252877.2:p.Tyr348Ter
XM_005252820.3:c.1044T>A XP_005252877.2:p.Tyr348Ter
XM_005252821.2:c.1041T>A XP_005252878.2:p.Tyr347Ter
XM_005252821.3:c.1041T>A XP_005252878.2:p.Tyr347Ter
XM_005252822.3:c.1008T>A XP_005252879.1:p.Tyr336Ter
XM_005252822.4:c.1008T>A XP_005252879.1:p.Tyr336Ter
XM_005252823.3:c.1005T>A XP_005252880.1:p.Tyr335Ter
XM_011519949.1:c.993T>A XP_011518251.1:p.Tyr331Ter
XM_011519949.2:c.993T>A XP_011518251.1:p.Tyr331Ter