Canonical Allele Identifier: CA5923150

Gene: ANO5

Linked Data

• ClinVar Variation Id: 536726
• ClinVar RCV Id: RCV000645351 ; RCV000729498 ; RCV003117452
• dbSNP Id: rs561719071
• ExAC: 11:22272496 G / A
• gnomAD v2: 11-22272496-G-A
• gnomAD v3: 11-22250950-G-A
• gnomAD v4: 11-22250950-G-A
• MyVariant Identifiers: chr11:g.22272496G>A (hg19) ; chr11:g.22250950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250950G>A , CM000673.2:g.22250950G>A	GRCh38
NC_000011.9:g.22272496G>A , CM000673.1:g.22272496G>A	GRCh37
NC_000011.8:g.22229072G>A	NCBI36
NG_015844.1:g.62775G>A , LRG_868:g.62775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.440-1G>A
ENST00000682266.1:c.670-1G>A	ENSP00000507766.1:n.670-1G>A
ENST00000682341.1:c.1078-1G>A	ENSP00000508251.1:n.1078-1G>A
ENST00000682530.1:c.*1052-1G>A	ENSP00000506805.1:n.*1052-1G>A
ENST00000683197.1:c.1078-1G>A	ENSP00000507641.1:n.1078-1G>A
ENST00000683411.1:c.670-1G>A	ENSP00000508397.1:n.670-1G>A
ENST00000683437.1:c.670-1G>A	ENSP00000508408.1:n.670-1G>A
ENST00000683613.1:n.2114-1G>A
ENST00000683834.1:n.1320-1G>A
ENST00000684663.1:c.1075-1G>A	ENSP00000508009.1:n.1075-1G>A
ENST00000324559.9:c.1120-1G>A MANE Select	ENSP00000315371.9:n.1120-1G>A
ENST00000648804.1:n.1455-1G>A
ENST00000324559.8:c.1120-1G>A	ENSP00000315371.8:n.1120-1G>A
NM_001142649.1:c.1117-1G>A	NP_001136121.1:n.1117-1G>A
NM_213599.2:c.1120-1G>A , LRG_868t1:c.1120-1G>A	NP_998764.1:n.1120-1G>A
XM_005252820.2:c.1078-1G>A	XP_005252877.2:n.1078-1G>A
XM_005252821.2:c.1075-1G>A	XP_005252878.2:n.1075-1G>A
XM_005252822.3:c.1042-1G>A	XP_005252879.1:n.1042-1G>A
XM_005252823.3:c.1039-1G>A	XP_005252880.1:n.1039-1G>A
XM_011519949.1:c.1027-1G>A	XP_011518251.1:n.1027-1G>A
XM_005252820.3:c.1078-1G>A	XP_005252877.2:n.1078-1G>A
XM_005252821.3:c.1075-1G>A	XP_005252878.2:n.1075-1G>A
XM_005252822.4:c.1042-1G>A	XP_005252879.1:n.1042-1G>A
XM_011519949.2:c.1027-1G>A	XP_011518251.1:n.1027-1G>A
NM_001142649.2:c.1117-1G>A	NP_001136121.1:n.1117-1G>A
NM_213599.3:c.1120-1G>A MANE Select	NP_998764.1:n.1120-1G>A