Canonical Allele Identifier: CA5923455
Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 468839
ClinVar RCV Id: RCV000528684
dbSNP Id: rs772625102

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22272850T>C , CM000673.2:g.22272850T>C GRCh38
NC_000011.9:g.22294396T>C , CM000673.1:g.22294396T>C GRCh37
NC_000011.8:g.22250972T>C NCBI36
NG_015844.1:g.84675T>C , LRG_868:g.84675T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000532043.2:n.113T>C
ENST00000682266.1:c.1646T>C ENSP00000507766.1:p.Ile549Thr
ENST00000682341.1:c.2054T>C ENSP00000508251.1:p.Ile685Thr
ENST00000683197.1:c.2054T>C ENSP00000507641.1:p.Ile685Thr
ENST00000683411.1:c.1646T>C ENSP00000508397.1:p.Ile549Thr
ENST00000683437.1:c.1646T>C ENSP00000508408.1:p.Ile549Thr
ENST00000683613.1:n.3090T>C
ENST00000684663.1:c.2051T>C ENSP00000508009.1:p.Ile684Thr
ENST00000324559.9:c.2096T>C MANE Select ENSP00000315371.9:p.Ile699Thr
ENST00000648804.1:n.2431T>C
ENST00000324559.8:c.2096T>C ENSP00000315371.8:p.Ile699Thr
ENST00000532043.1:n.113T>C
NM_001142649.1:c.2093T>C NP_001136121.1:p.Ile698Thr
NM_213599.2:c.2096T>C , LRG_868t1:c.2096T>C NP_998764.1:p.Ile699Thr
XM_005252820.2:c.2054T>C XP_005252877.2:p.Ile685Thr
XM_005252821.2:c.2051T>C XP_005252878.2:p.Ile684Thr
XM_005252822.3:c.2018T>C XP_005252879.1:p.Ile673Thr
XM_005252823.3:c.2015T>C XP_005252880.1:p.Ile672Thr
XM_011519949.1:c.2003T>C XP_011518251.1:p.Ile668Thr
XM_005252820.3:c.2054T>C XP_005252877.2:p.Ile685Thr
XM_005252821.3:c.2051T>C XP_005252878.2:p.Ile684Thr
XM_005252822.4:c.2018T>C XP_005252879.1:p.Ile673Thr
XM_011519949.2:c.2003T>C XP_011518251.1:p.Ile668Thr
NM_001142649.2:c.2093T>C NP_001136121.1:p.Ile698Thr
NM_213599.3:c.2096T>C MANE Select NP_998764.1:p.Ile699Thr