Canonical Allele Identifier: CA5922816

Gene: ANO5

Linked Data

• dbSNP Id: rs750235317
• ExAC: 11:22239793 C / A
• gnomAD v2: 11-22239793-C-A
• gnomAD v3: 11-22218247-C-A
• gnomAD v4: 11-22218247-C-A
• MyVariant Identifiers: chr11:g.22239793C>A (hg19) ; chr11:g.22218247C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22218247C>A , CM000673.2:g.22218247C>A	GRCh38
NC_000011.9:g.22239793C>A , CM000673.1:g.22239793C>A	GRCh37
NC_000011.8:g.22196369C>A	NCBI36
NG_015844.1:g.30072C>A , LRG_868:g.30072C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682084.1:n.3314C>A
ENST00000682266.1:c.-270-2850C>A	ENSP00000507766.1:n.-270-2850C>A
ENST00000682341.1:c.139-2850C>A	ENSP00000508251.1:n.139-2850C>A
ENST00000682530.1:c.136-496C>A	ENSP00000506805.1:n.136-496C>A
ENST00000682684.1:n.560-2850C>A
ENST00000683197.1:c.139-2850C>A	ENSP00000507641.1:n.139-2850C>A
ENST00000683411.1:c.-270-2850C>A	ENSP00000508397.1:n.-270-2850C>A
ENST00000683437.1:c.-270-2850C>A	ENSP00000508408.1:n.-270-2850C>A
ENST00000683834.1:n.381-2850C>A
ENST00000683897.1:n.425-2850C>A
ENST00000684365.1:n.550-2850C>A
ENST00000684663.1:c.136-2850C>A	ENSP00000508009.1:n.136-2850C>A
ENST00000324559.9:c.140C>A MANE Select	ENSP00000315371.9:p.Pro47His
ENST00000648804.1:n.670-339C>A
ENST00000324559.8:c.140C>A	ENSP00000315371.8:p.Pro47His
NM_001142649.1:c.137C>A	NP_001136121.1:p.Pro46His
NM_213599.2:c.140C>A , LRG_868t1:c.140C>A	NP_998764.1:p.Pro47His
XM_005252820.2:c.139-2850C>A	XP_005252877.2:n.139-2850C>A
XM_005252821.2:c.136-2850C>A	XP_005252878.2:n.136-2850C>A
XM_005252822.3:c.62C>A	XP_005252879.1:p.Pro21His
XM_005252823.3:c.59C>A	XP_005252880.1:p.Pro20His
XM_011519949.1:c.88-2850C>A	XP_011518251.1:n.88-2850C>A
XM_005252820.3:c.139-2850C>A	XP_005252877.2:n.139-2850C>A
XM_005252821.3:c.136-2850C>A	XP_005252878.2:n.136-2850C>A
XM_005252822.4:c.62C>A	XP_005252879.1:p.Pro21His
XM_011519949.2:c.88-2850C>A	XP_011518251.1:n.88-2850C>A
NM_001142649.2:c.137C>A	NP_001136121.1:p.Pro46His
NM_213599.3:c.140C>A MANE Select	NP_998764.1:p.Pro47His