Canonical Allele Identifier: CA232776

Gene: ANO5

Linked Data

• ClinVar Variation Id: 2161
• ClinVar RCV Id: RCV000002244 ; RCV000128765
• dbSNP Id: rs119103234
• MyVariant Identifiers: chr11:g.22272339T>C (hg19) ; chr11:g.22250793T>C (hg38)
• PubMed: PMID:5816667 ; PMID:15124103 ; PMID:23193613

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250793T>C , CM000673.2:g.22250793T>C	GRCh38
NC_000011.9:g.22272339T>C , CM000673.1:g.22272339T>C	GRCh37
NC_000011.8:g.22228915T>C	NCBI36
NG_015844.1:g.62618T>C , LRG_868:g.62618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.386T>C
ENST00000682266.1:c.616T>C	ENSP00000507766.1:p.Cys206Arg
ENST00000682341.1:c.1024T>C	ENSP00000508251.1:p.Cys342Arg
ENST00000682530.1:c.*998T>C	ENSP00000506805.1:n.*998T>C
ENST00000683197.1:c.1024T>C	ENSP00000507641.1:p.Cys342Arg
ENST00000683411.1:c.616T>C	ENSP00000508397.1:p.Cys206Arg
ENST00000683437.1:c.616T>C	ENSP00000508408.1:p.Cys206Arg
ENST00000683613.1:n.2060T>C
ENST00000683834.1:n.1266T>C
ENST00000684663.1:c.1021T>C	ENSP00000508009.1:p.Cys341Arg
ENST00000324559.9:c.1066T>C MANE Select	ENSP00000315371.9:p.Cys356Arg
ENST00000648804.1:n.1401T>C
ENST00000324559.8:c.1066T>C	ENSP00000315371.8:p.Cys356Arg
NM_001142649.1:c.1063T>C	NP_001136121.1:p.Cys355Arg
NM_213599.2:c.1066T>C , LRG_868t1:c.1066T>C	NP_998764.1:p.Cys356Arg
XM_005252820.2:c.1024T>C	XP_005252877.2:p.Cys342Arg
XM_005252821.2:c.1021T>C	XP_005252878.2:p.Cys341Arg
XM_005252822.3:c.988T>C	XP_005252879.1:p.Cys330Arg
XM_005252823.3:c.985T>C	XP_005252880.1:p.Cys329Arg
XM_011519949.1:c.973T>C	XP_011518251.1:p.Cys325Arg
XM_005252820.3:c.1024T>C	XP_005252877.2:p.Cys342Arg
XM_005252821.3:c.1021T>C	XP_005252878.2:p.Cys341Arg
XM_005252822.4:c.988T>C	XP_005252879.1:p.Cys330Arg
XM_011519949.2:c.973T>C	XP_011518251.1:p.Cys325Arg
NM_001142649.2:c.1063T>C	NP_001136121.1:p.Cys355Arg
NM_213599.3:c.1066T>C MANE Select	NP_998764.1:p.Cys356Arg