Canonical Allele Identifier: CA5923267
Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 839005
ClinVar RCV Id: RCV001040668
dbSNP Id: rs375611559

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22259579A>T , CM000673.2:g.22259579A>T GRCh38
NC_000011.9:g.22281125A>T , CM000673.1:g.22281125A>T GRCh37
NC_000011.8:g.22237701A>T NCBI36
NG_015844.1:g.71404A>T , LRG_868:g.71404A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682266.1:c.1018A>T ENSP00000507766.1:p.Thr340Ser
ENST00000682341.1:c.1426A>T ENSP00000508251.1:p.Thr476Ser
ENST00000683197.1:c.1426A>T ENSP00000507641.1:p.Thr476Ser
ENST00000683411.1:c.1018A>T ENSP00000508397.1:p.Thr340Ser
ENST00000683437.1:c.1018A>T ENSP00000508408.1:p.Thr340Ser
ENST00000683613.1:n.2462A>T
ENST00000684663.1:c.1423A>T ENSP00000508009.1:p.Thr475Ser
ENST00000324559.9:c.1468A>T MANE Select ENSP00000315371.9:p.Thr490Ser
ENST00000648804.1:n.1803A>T
ENST00000324559.8:c.1468A>T ENSP00000315371.8:p.Thr490Ser
NM_001142649.1:c.1465A>T NP_001136121.1:p.Thr489Ser
NM_213599.2:c.1468A>T , LRG_868t1:c.1468A>T NP_998764.1:p.Thr490Ser
XM_005252820.2:c.1426A>T XP_005252877.2:p.Thr476Ser
XM_005252821.2:c.1423A>T XP_005252878.2:p.Thr475Ser
XM_005252822.3:c.1390A>T XP_005252879.1:p.Thr464Ser
XM_005252823.3:c.1387A>T XP_005252880.1:p.Thr463Ser
XM_011519949.1:c.1375A>T XP_011518251.1:p.Thr459Ser
XM_005252820.3:c.1426A>T XP_005252877.2:p.Thr476Ser
XM_005252821.3:c.1423A>T XP_005252878.2:p.Thr475Ser
XM_005252822.4:c.1390A>T XP_005252879.1:p.Thr464Ser
XM_011519949.2:c.1375A>T XP_011518251.1:p.Thr459Ser
NM_001142649.2:c.1465A>T NP_001136121.1:p.Thr489Ser
NM_213599.3:c.1468A>T MANE Select NP_998764.1:p.Thr490Ser