Canonical Allele Identifier: CA10630613

Gene: ANO5

Linked Data

• ClinVar Variation Id: 304102
• ClinVar RCV Id: RCV000312495 ; RCV000401139 ; RCV001106646
• dbSNP Id: rs886048120
• MyVariant Identifiers: chr11:g.22283685A>C (hg19) ; chr11:g.22262139A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22262139A>C , CM000673.2:g.22262139A>C	GRCh38
NC_000011.9:g.22283685A>C , CM000673.1:g.22283685A>C	GRCh37
NC_000011.8:g.22240261A>C	NCBI36
NG_015844.1:g.73964A>C , LRG_868:g.73964A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1191A>C	ENSP00000507766.1:p.Arg397=
ENST00000682341.1:c.1599A>C	ENSP00000508251.1:p.Arg533=
ENST00000683197.1:c.1599A>C	ENSP00000507641.1:p.Arg533=
ENST00000683411.1:c.1191A>C	ENSP00000508397.1:p.Arg397=
ENST00000683437.1:c.1191A>C	ENSP00000508408.1:p.Arg397=
ENST00000683613.1:n.2635A>C
ENST00000684663.1:c.1596A>C	ENSP00000508009.1:p.Arg532=
ENST00000324559.9:c.1641A>C MANE Select	ENSP00000315371.9:p.Arg547=
ENST00000648804.1:n.1976A>C
ENST00000324559.8:c.1641A>C	ENSP00000315371.8:p.Arg547=
NM_001142649.1:c.1638A>C	NP_001136121.1:p.Arg546=
NM_213599.2:c.1641A>C , LRG_868t1:c.1641A>C	NP_998764.1:p.Arg547=
XM_005252820.2:c.1599A>C	XP_005252877.2:p.Arg533=
XM_005252821.2:c.1596A>C	XP_005252878.2:p.Arg532=
XM_005252822.3:c.1563A>C	XP_005252879.1:p.Arg521=
XM_005252823.3:c.1560A>C	XP_005252880.1:p.Arg520=
XM_011519949.1:c.1548A>C	XP_011518251.1:p.Arg516=
XM_005252820.3:c.1599A>C	XP_005252877.2:p.Arg533=
XM_005252821.3:c.1596A>C	XP_005252878.2:p.Arg532=
XM_005252822.4:c.1563A>C	XP_005252879.1:p.Arg521=
XM_011519949.2:c.1548A>C	XP_011518251.1:p.Arg516=
NM_001142649.2:c.1638A>C	NP_001136121.1:p.Arg546=
NM_213599.3:c.1641A>C MANE Select	NP_998764.1:p.Arg547=