Canonical Allele Identifier: CA10605995

Gene: ANO5

Linked Data

• ClinVar Variation Id: 288186
• ClinVar RCV Id: RCV000305189 ; RCV002518020
• dbSNP Id: rs745356431
• MyVariant Identifiers: chr11:g.22294493A>C (hg19) ; chr11:g.22272947A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272947A>C , CM000673.2:g.22272947A>C	GRCh38
NC_000011.9:g.22294493A>C , CM000673.1:g.22294493A>C	GRCh37
NC_000011.8:g.22251069A>C	NCBI36
NG_015844.1:g.84772A>C , LRG_868:g.84772A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.210A>C
ENST00000682266.1:c.1743A>C	ENSP00000507766.1:p.Gln581His
ENST00000682341.1:c.2151A>C	ENSP00000508251.1:p.Gln717His
ENST00000683197.1:c.2151A>C	ENSP00000507641.1:p.Gln717His
ENST00000683411.1:c.1743A>C	ENSP00000508397.1:p.Gln581His
ENST00000683437.1:c.1743A>C	ENSP00000508408.1:p.Gln581His
ENST00000683613.1:n.3187A>C
ENST00000684663.1:c.2148A>C	ENSP00000508009.1:p.Gln716His
ENST00000324559.9:c.2193A>C MANE Select	ENSP00000315371.9:p.Gln731His
ENST00000648804.1:n.2528A>C
ENST00000324559.8:c.2193A>C	ENSP00000315371.8:p.Gln731His
ENST00000532043.1:n.210A>C
NM_001142649.1:c.2190A>C	NP_001136121.1:p.Gln730His
NM_213599.2:c.2193A>C , LRG_868t1:c.2193A>C	NP_998764.1:p.Gln731His
XM_005252820.2:c.2151A>C	XP_005252877.2:p.Gln717His
XM_005252821.2:c.2148A>C	XP_005252878.2:p.Gln716His
XM_005252822.3:c.2115A>C	XP_005252879.1:p.Gln705His
XM_005252823.3:c.2112A>C	XP_005252880.1:p.Gln704His
XM_011519949.1:c.2100A>C	XP_011518251.1:p.Gln700His
XM_005252820.3:c.2151A>C	XP_005252877.2:p.Gln717His
XM_005252821.3:c.2148A>C	XP_005252878.2:p.Gln716His
XM_005252822.4:c.2115A>C	XP_005252879.1:p.Gln705His
XM_011519949.2:c.2100A>C	XP_011518251.1:p.Gln700His
NM_001142649.2:c.2190A>C	NP_001136121.1:p.Gln730His
NM_213599.3:c.2193A>C MANE Select	NP_998764.1:p.Gln731His