Canonical Allele Identifier: CA5922989

Gene: ANO5

Linked Data

• ClinVar Variation Id: 850288
• ClinVar RCV Id: RCV001054427 ; RCV001759799
• dbSNP Id: rs749915913
• ExAC: 11:22257731 G / C
• gnomAD v2: 11-22257731-G-C
• gnomAD v3: 11-22236185-G-C
• gnomAD v4: 11-22236185-G-C
• MyVariant Identifiers: chr11:g.22257731G>C (hg19) ; chr11:g.22236185G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22236185G>C , CM000673.2:g.22236185G>C	GRCh38
NC_000011.9:g.22257731G>C , CM000673.1:g.22257731G>C	GRCh37
NC_000011.8:g.22214307G>C	NCBI36
NG_015844.1:g.48010G>C , LRG_868:g.48010G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.221G>C	ENSP00000507766.1:p.Cys74Ser
ENST00000682341.1:c.629G>C	ENSP00000508251.1:p.Cys210Ser
ENST00000682530.1:c.*603G>C	ENSP00000506805.1:n.*603G>C
ENST00000682684.1:n.1050G>C
ENST00000683197.1:c.629G>C	ENSP00000507641.1:p.Cys210Ser
ENST00000683411.1:c.221G>C	ENSP00000508397.1:p.Cys74Ser
ENST00000683437.1:c.221G>C	ENSP00000508408.1:p.Cys74Ser
ENST00000683613.1:n.1665G>C
ENST00000683834.1:n.871G>C
ENST00000684663.1:c.626G>C	ENSP00000508009.1:p.Cys209Ser
ENST00000324559.9:c.671G>C MANE Select	ENSP00000315371.9:p.Cys224Ser
ENST00000648804.1:n.1213+8599G>C
ENST00000324559.8:c.671G>C	ENSP00000315371.8:p.Cys224Ser
NM_001142649.1:c.668G>C	NP_001136121.1:p.Cys223Ser
NM_213599.2:c.671G>C , LRG_868t1:c.671G>C	NP_998764.1:p.Cys224Ser
XM_005252820.2:c.629G>C	XP_005252877.2:p.Cys210Ser
XM_005252821.2:c.626G>C	XP_005252878.2:p.Cys209Ser
XM_005252822.3:c.593G>C	XP_005252879.1:p.Cys198Ser
XM_005252823.3:c.590G>C	XP_005252880.1:p.Cys197Ser
XM_011519949.1:c.578G>C	XP_011518251.1:p.Cys193Ser
XM_005252820.3:c.629G>C	XP_005252877.2:p.Cys210Ser
XM_005252821.3:c.626G>C	XP_005252878.2:p.Cys209Ser
XM_005252822.4:c.593G>C	XP_005252879.1:p.Cys198Ser
XM_011519949.2:c.578G>C	XP_011518251.1:p.Cys193Ser
NM_001142649.2:c.668G>C	NP_001136121.1:p.Cys223Ser
NM_213599.3:c.671G>C MANE Select	NP_998764.1:p.Cys224Ser