Canonical Allele Identifier: CA379921405
Gene: ANO5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22255395A>T , CM000673.2:g.22255395A>T GRCh38
NC_000011.9:g.22276941A>T , CM000673.1:g.22276941A>T GRCh37
NC_000011.8:g.22233517A>T NCBI36
NG_015844.1:g.67220A>T , LRG_868:g.67220A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682089.1:n.525A>T
ENST00000682266.1:c.755A>T ENSP00000507766.1:p.Lys252Ile
ENST00000682341.1:c.1163A>T ENSP00000508251.1:p.Lys388Ile
ENST00000682530.1:c.*1137A>T ENSP00000506805.1:n.*1137A>T
ENST00000683197.1:c.1163A>T ENSP00000507641.1:p.Lys388Ile
ENST00000683411.1:c.755A>T ENSP00000508397.1:p.Lys252Ile
ENST00000683437.1:c.755A>T ENSP00000508408.1:p.Lys252Ile
ENST00000683613.1:n.2199A>T
ENST00000683834.1:n.1405A>T
ENST00000684663.1:c.1160A>T ENSP00000508009.1:p.Lys387Ile
ENST00000324559.9:c.1205A>T MANE Select ENSP00000315371.9:p.Lys402Ile
ENST00000648804.1:n.1540A>T
ENST00000324559.8:c.1205A>T ENSP00000315371.8:p.Lys402Ile
NM_001142649.1:c.1202A>T NP_001136121.1:p.Lys401Ile
NM_213599.2:c.1205A>T , LRG_868t1:c.1205A>T NP_998764.1:p.Lys402Ile
XM_005252820.2:c.1163A>T XP_005252877.2:p.Lys388Ile
XM_005252821.2:c.1160A>T XP_005252878.2:p.Lys387Ile
XM_005252822.3:c.1127A>T XP_005252879.1:p.Lys376Ile
XM_005252823.3:c.1124A>T XP_005252880.1:p.Lys375Ile
XM_011519949.1:c.1112A>T XP_011518251.1:p.Lys371Ile
XM_005252820.3:c.1163A>T XP_005252877.2:p.Lys388Ile
XM_005252821.3:c.1160A>T XP_005252878.2:p.Lys387Ile
XM_005252822.4:c.1127A>T XP_005252879.1:p.Lys376Ile
XM_011519949.2:c.1112A>T XP_011518251.1:p.Lys371Ile
NM_001142649.2:c.1202A>T NP_001136121.1:p.Lys401Ile
NM_213599.3:c.1205A>T MANE Select NP_998764.1:p.Lys402Ile