Canonical Allele Identifier: CA224408
Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2163
dbSNP Id: rs137854524

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22255485C>G , CM000673.2:g.22255485C>G GRCh38
NC_000011.9:g.22277031C>G , CM000673.1:g.22277031C>G GRCh37
NC_000011.8:g.22233607C>G NCBI36
NG_015844.1:g.67310C>G , LRG_868:g.67310C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000324559.9:c.1295C>G MANE Select ENSP00000315371.9:p.Ala432Gly
ENST00000648804.1:n.1630C>G
ENST00000324559.8:c.1295C>G ENSP00000315371.8:p.Ala432Gly
NM_001142649.1:c.1292C>G NP_001136121.1:p.Ala431Gly
NM_213599.2:c.1295C>G , LRG_868t1:c.1295C>G NP_998764.1:p.Ala432Gly
XM_005252820.2:c.1253C>G XP_005252877.2:p.Ala418Gly
XM_005252821.2:c.1250C>G XP_005252878.2:p.Ala417Gly
XM_005252822.3:c.1217C>G XP_005252879.1:p.Ala406Gly
XM_005252823.3:c.1214C>G XP_005252880.1:p.Ala405Gly
XM_011519949.1:c.1202C>G XP_011518251.1:p.Ala401Gly
XM_005252820.3:c.1253C>G XP_005252877.2:p.Ala418Gly
XM_005252821.3:c.1250C>G XP_005252878.2:p.Ala417Gly
XM_005252822.4:c.1217C>G XP_005252879.1:p.Ala406Gly
XM_011519949.2:c.1202C>G XP_011518251.1:p.Ala401Gly
NM_001142649.2:c.1292C>G NP_001136121.1:p.Ala431Gly
NM_213599.3:c.1295C>G MANE Select NP_998764.1:p.Ala432Gly