Canonical Allele Identifier: CA343748

Gene: ANO5

Linked Data

• ClinVar Variation Id: 39276
• ClinVar RCV Id: RCV000032553 ; RCV000032968 ; RCV001091512
• dbSNP Id: rs281865464
• ExAC: 11:22279305 G / A
• gnomAD v2: 11-22279305-G-A
• gnomAD v3: 11-22257759-G-A
• gnomAD v4: 11-22257759-G-A
• MyVariant Identifiers: chr11:g.22279305G>A (hg19) ; chr11:g.22257759G>A (hg38)
• PubMed: PMID:23193613

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22257759G>A , CM000673.2:g.22257759G>A	GRCh38
NC_000011.9:g.22279305G>A , CM000673.1:g.22279305G>A	GRCh37
NC_000011.8:g.22235881G>A	NCBI36
NG_015844.1:g.69584G>A , LRG_868:g.69584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.957+5G>A	ENSP00000507766.1:n.957+5G>A
ENST00000682341.1:c.1365+5G>A	ENSP00000508251.1:n.1365+5G>A
ENST00000683197.1:c.1365+5G>A	ENSP00000507641.1:n.1365+5G>A
ENST00000683411.1:c.957+5G>A	ENSP00000508397.1:n.957+5G>A
ENST00000683437.1:c.957+5G>A	ENSP00000508408.1:n.957+5G>A
ENST00000683613.1:n.2401+5G>A
ENST00000684663.1:c.1362+5G>A	ENSP00000508009.1:n.1362+5G>A
ENST00000324559.9:c.1407+5G>A MANE Select	ENSP00000315371.9:n.1407+5G>A
ENST00000648804.1:n.1742+5G>A
ENST00000324559.8:c.1407+5G>A	ENSP00000315371.8:n.1407+5G>A
NM_001142649.1:c.1404+5G>A	NP_001136121.1:n.1404+5G>A
NM_213599.2:c.1407+5G>A , LRG_868t1:c.1407+5G>A	NP_998764.1:n.1407+5G>A
XM_005252820.2:c.1365+5G>A	XP_005252877.2:n.1365+5G>A
XM_005252821.2:c.1362+5G>A	XP_005252878.2:n.1362+5G>A
XM_005252822.3:c.1329+5G>A	XP_005252879.1:n.1329+5G>A
XM_005252823.3:c.1326+5G>A	XP_005252880.1:n.1326+5G>A
XM_011519949.1:c.1314+5G>A	XP_011518251.1:n.1314+5G>A
XM_005252820.3:c.1365+5G>A	XP_005252877.2:n.1365+5G>A
XM_005252821.3:c.1362+5G>A	XP_005252878.2:n.1362+5G>A
XM_005252822.4:c.1329+5G>A	XP_005252879.1:n.1329+5G>A
XM_011519949.2:c.1314+5G>A	XP_011518251.1:n.1314+5G>A
NM_001142649.2:c.1404+5G>A	NP_001136121.1:n.1404+5G>A
NM_213599.3:c.1407+5G>A MANE Select	NP_998764.1:n.1407+5G>A