Canonical Allele Identifier: CA5922875

Gene: ANO5

Linked Data

• ClinVar Variation Id: 284938
• ClinVar RCV Id: RCV000384541 ; RCV001446742
• dbSNP Id: rs753416246
• ExAC: 11:22247523 G / A
• gnomAD v2: 11-22247523-G-A
• gnomAD v4: 11-22225977-G-A
• MyVariant Identifiers: chr11:g.22247523G>A (hg19) ; chr11:g.22225977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22225977G>A , CM000673.2:g.22225977G>A	GRCh38
NC_000011.9:g.22247523G>A , CM000673.1:g.22247523G>A	GRCh37
NC_000011.8:g.22204099G>A	NCBI36
NG_015844.1:g.37802G>A , LRG_868:g.37802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.-156-7G>A	ENSP00000507766.1:n.-156-7G>A
ENST00000682341.1:c.253-7G>A	ENSP00000508251.1:n.253-7G>A
ENST00000682530.1:c.*227-7G>A	ENSP00000506805.1:n.*227-7G>A
ENST00000682684.1:n.674-7G>A
ENST00000683197.1:c.253-7G>A	ENSP00000507641.1:n.253-7G>A
ENST00000683411.1:c.-156-7G>A	ENSP00000508397.1:n.-156-7G>A
ENST00000683437.1:c.-156-7G>A	ENSP00000508408.1:n.-156-7G>A
ENST00000683613.1:n.1289-7G>A
ENST00000683834.1:n.495-7G>A
ENST00000684663.1:c.250-7G>A	ENSP00000508009.1:n.250-7G>A
ENST00000324559.9:c.295-7G>A MANE Select	ENSP00000315371.9:n.295-7G>A
ENST00000648804.1:n.860-7G>A
ENST00000324559.8:c.295-7G>A	ENSP00000315371.8:n.295-7G>A
NM_001142649.1:c.292-7G>A	NP_001136121.1:n.292-7G>A
NM_213599.2:c.295-7G>A , LRG_868t1:c.295-7G>A	NP_998764.1:n.295-7G>A
XM_005252820.2:c.253-7G>A	XP_005252877.2:n.253-7G>A
XM_005252821.2:c.250-7G>A	XP_005252878.2:n.250-7G>A
XM_005252822.3:c.217-7G>A	XP_005252879.1:n.217-7G>A
XM_005252823.3:c.214-7G>A	XP_005252880.1:n.214-7G>A
XM_011519949.1:c.202-7G>A	XP_011518251.1:n.202-7G>A
XM_005252820.3:c.253-7G>A	XP_005252877.2:n.253-7G>A
XM_005252821.3:c.250-7G>A	XP_005252878.2:n.250-7G>A
XM_005252822.4:c.217-7G>A	XP_005252879.1:n.217-7G>A
XM_011519949.2:c.202-7G>A	XP_011518251.1:n.202-7G>A
NM_001142649.2:c.292-7G>A	NP_001136121.1:n.292-7G>A
NM_213599.3:c.295-7G>A MANE Select	NP_998764.1:n.295-7G>A