Canonical Allele Identifier: CA16606911

Gene: ANO5

Linked Data

• ClinVar Variation Id: 386568
• ClinVar RCV Id: RCV000440895
• dbSNP Id: rs1057522538
• gnomAD v2: 11-22294475-T-C
• gnomAD v3: 11-22272929-T-C
• gnomAD v4: 11-22272929-T-C
• MyVariant Identifiers: chr11:g.22294475T>C (hg19) ; chr11:g.22272929T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272929T>C , CM000673.2:g.22272929T>C	GRCh38
NC_000011.9:g.22294475T>C , CM000673.1:g.22294475T>C	GRCh37
NC_000011.8:g.22251051T>C	NCBI36
NG_015844.1:g.84754T>C , LRG_868:g.84754T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.192T>C
ENST00000682266.1:c.1725T>C	ENSP00000507766.1:p.His575=
ENST00000682341.1:c.2133T>C	ENSP00000508251.1:p.His711=
ENST00000683197.1:c.2133T>C	ENSP00000507641.1:p.His711=
ENST00000683411.1:c.1725T>C	ENSP00000508397.1:p.His575=
ENST00000683437.1:c.1725T>C	ENSP00000508408.1:p.His575=
ENST00000683613.1:n.3169T>C
ENST00000684663.1:c.2130T>C	ENSP00000508009.1:p.His710=
ENST00000324559.9:c.2175T>C MANE Select	ENSP00000315371.9:p.His725=
ENST00000648804.1:n.2510T>C
ENST00000324559.8:c.2175T>C	ENSP00000315371.8:p.His725=
ENST00000532043.1:n.192T>C
NM_001142649.1:c.2172T>C	NP_001136121.1:p.His724=
NM_213599.2:c.2175T>C , LRG_868t1:c.2175T>C	NP_998764.1:p.His725=
XM_005252820.2:c.2133T>C	XP_005252877.2:p.His711=
XM_005252821.2:c.2130T>C	XP_005252878.2:p.His710=
XM_005252822.3:c.2097T>C	XP_005252879.1:p.His699=
XM_005252823.3:c.2094T>C	XP_005252880.1:p.His698=
XM_011519949.1:c.2082T>C	XP_011518251.1:p.His694=
XM_005252820.3:c.2133T>C	XP_005252877.2:p.His711=
XM_005252821.3:c.2130T>C	XP_005252878.2:p.His710=
XM_005252822.4:c.2097T>C	XP_005252879.1:p.His699=
XM_011519949.2:c.2082T>C	XP_011518251.1:p.His694=
NM_001142649.2:c.2172T>C	NP_001136121.1:p.His724=
NM_213599.3:c.2175T>C MANE Select	NP_998764.1:p.His725=