Canonical Allele Identifier: CA218741106
Community Standard Title: NM_213599.3(ANO5):c.649-2A>G
Gene: ANO5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22236161A>G , CM000673.2:g.22236161A>G GRCh38
NC_000011.9:g.22257707A>G , CM000673.1:g.22257707A>G GRCh37
NC_000011.8:g.22214283A>G NCBI36
NG_015844.1:g.47986A>G , LRG_868:g.47986A>G

Transcript Alleles

HGVS Amino-acid Change
NM_213599.3:c.649-2A>G MANE Select NP_998764.1:n.649-2A>G
ENST00000324559.9:c.649-2A>G MANE Select ENSP00000315371.9:n.649-2A>G
NM_001142649.1:c.646-2A>G NP_001136121.1:n.646-2A>G
NM_001142649.2:c.646-2A>G NP_001136121.1:n.646-2A>G
NM_213599.2:c.649-2A>G , LRG_868t1:c.649-2A>G NP_998764.1:n.649-2A>G
ENST00000324559.8:c.649-2A>G ENSP00000315371.8:n.649-2A>G
ENST00000648804.1:n.1213+8575A>G
ENST00000682266.1:c.199-2A>G ENSP00000507766.1:n.199-2A>G
ENST00000682341.1:c.607-2A>G ENSP00000508251.1:n.607-2A>G
ENST00000682530.1:c.*581-2A>G ENSP00000506805.1:n.*581-2A>G
ENST00000682684.1:n.1028-2A>G
ENST00000683197.1:c.607-2A>G ENSP00000507641.1:n.607-2A>G
ENST00000683411.1:c.199-2A>G ENSP00000508397.1:n.199-2A>G
ENST00000683437.1:c.199-2A>G ENSP00000508408.1:n.199-2A>G
ENST00000683613.1:n.1643-2A>G
ENST00000683834.1:n.849-2A>G
ENST00000684663.1:c.604-2A>G ENSP00000508009.1:n.604-2A>G
XM_005252820.2:c.607-2A>G XP_005252877.2:n.607-2A>G
XM_005252820.3:c.607-2A>G XP_005252877.2:n.607-2A>G
XM_005252821.2:c.604-2A>G XP_005252878.2:n.604-2A>G
XM_005252821.3:c.604-2A>G XP_005252878.2:n.604-2A>G
XM_005252822.3:c.571-2A>G XP_005252879.1:n.571-2A>G
XM_005252822.4:c.571-2A>G XP_005252879.1:n.571-2A>G
XM_005252823.3:c.568-2A>G XP_005252880.1:n.568-2A>G
XM_011519949.1:c.556-2A>G XP_011518251.1:n.556-2A>G
XM_011519949.2:c.556-2A>G XP_011518251.1:n.556-2A>G