Canonical Allele Identifier: CA241255
Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 195004
dbSNP Id: rs200631556

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22272895C>G , CM000673.2:g.22272895C>G GRCh38
NC_000011.9:g.22294441C>G , CM000673.1:g.22294441C>G GRCh37
NC_000011.8:g.22251017C>G NCBI36
NG_015844.1:g.84720C>G , LRG_868:g.84720C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000532043.2:n.158C>G
ENST00000682266.1:c.1691C>G ENSP00000507766.1:p.Thr564Ser
ENST00000682341.1:c.2099C>G ENSP00000508251.1:p.Thr700Ser
ENST00000683197.1:c.2099C>G ENSP00000507641.1:p.Thr700Ser
ENST00000683411.1:c.1691C>G ENSP00000508397.1:p.Thr564Ser
ENST00000683437.1:c.1691C>G ENSP00000508408.1:p.Thr564Ser
ENST00000683613.1:n.3135C>G
ENST00000684663.1:c.2096C>G ENSP00000508009.1:p.Thr699Ser
ENST00000324559.9:c.2141C>G MANE Select ENSP00000315371.9:p.Thr714Ser
ENST00000648804.1:n.2476C>G
ENST00000324559.8:c.2141C>G ENSP00000315371.8:p.Thr714Ser
ENST00000532043.1:n.158C>G
NM_001142649.1:c.2138C>G NP_001136121.1:p.Thr713Ser
NM_213599.2:c.2141C>G , LRG_868t1:c.2141C>G NP_998764.1:p.Thr714Ser
XM_005252820.2:c.2099C>G XP_005252877.2:p.Thr700Ser
XM_005252821.2:c.2096C>G XP_005252878.2:p.Thr699Ser
XM_005252822.3:c.2063C>G XP_005252879.1:p.Thr688Ser
XM_005252823.3:c.2060C>G XP_005252880.1:p.Thr687Ser
XM_011519949.1:c.2048C>G XP_011518251.1:p.Thr683Ser
XM_005252820.3:c.2099C>G XP_005252877.2:p.Thr700Ser
XM_005252821.3:c.2096C>G XP_005252878.2:p.Thr699Ser
XM_005252822.4:c.2063C>G XP_005252879.1:p.Thr688Ser
XM_011519949.2:c.2048C>G XP_011518251.1:p.Thr683Ser
NM_001142649.2:c.2138C>G NP_001136121.1:p.Thr713Ser
NM_213599.3:c.2141C>G MANE Select NP_998764.1:p.Thr714Ser