Canonical Allele Identifier: CA5923658
Community Standard Title: NM_213599.3(ANO5):c.2741A>G (p.Ter914=)
Gene: ANO5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22279764A>G , CM000673.2:g.22279764A>G GRCh38
NC_000011.9:g.22301310A>G , CM000673.1:g.22301310A>G GRCh37
NC_000011.8:g.22257886A>G NCBI36
NG_015844.1:g.91589A>G , LRG_868:g.91589A>G

Transcript Alleles

HGVS Amino-acid Change
NM_213599.3:c.2741A>G MANE Select NP_998764.1:p.Ter914=
ENST00000324559.9:c.2741A>G MANE Select ENSP00000315371.9:p.Ter914=
NM_001142649.1:c.2738A>G NP_001136121.1:p.Ter913=
NM_001142649.2:c.2738A>G NP_001136121.1:p.Ter913=
NM_213599.2:c.2741A>G , LRG_868t1:c.2741A>G NP_998764.1:p.Ter914=
ENST00000324559.8:c.2741A>G ENSP00000315371.8:p.Ter914=
ENST00000648804.1:n.3076A>G
ENST00000682266.1:c.2291A>G ENSP00000507766.1:p.Ter764=
ENST00000682341.1:c.2699A>G ENSP00000508251.1:p.Ter900=
ENST00000683197.1:c.*205A>G ENSP00000507641.1:n.*205A>G
ENST00000683411.1:c.2291A>G ENSP00000508397.1:p.Ter764=
ENST00000683437.1:c.2291A>G ENSP00000508408.1:p.Ter764=
ENST00000683613.1:n.3735A>G
ENST00000684663.1:c.2696A>G ENSP00000508009.1:p.Ter899=
XM_005252820.2:c.2699A>G XP_005252877.2:p.Ter900=
XM_005252820.3:c.2699A>G XP_005252877.2:p.Ter900=
XM_005252821.2:c.2696A>G XP_005252878.2:p.Ter899=
XM_005252821.3:c.2696A>G XP_005252878.2:p.Ter899=
XM_005252822.3:c.2663A>G XP_005252879.1:p.Ter888=
XM_005252822.4:c.2663A>G XP_005252879.1:p.Ter888=
XM_005252823.3:c.2660A>G XP_005252880.1:p.Ter887=
XM_011519949.1:c.2648A>G XP_011518251.1:p.Ter883=
XM_011519949.2:c.2648A>G XP_011518251.1:p.Ter883=