Canonical Allele Identifier: CA379922042

Gene: ANO5

Linked Data

• ClinVar Variation Id: 1719697
• ClinVar RCV Id: RCV002296796
• MyVariant Identifiers: chr11:g.22281101G>A (hg19) ; chr11:g.22259555G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259555G>A , CM000673.2:g.22259555G>A	GRCh38
NC_000011.9:g.22281101G>A , CM000673.1:g.22281101G>A	GRCh37
NC_000011.8:g.22237677G>A	NCBI36
NG_015844.1:g.71380G>A , LRG_868:g.71380G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.994G>A	ENSP00000507766.1:p.Val332Met
ENST00000682341.1:c.1402G>A	ENSP00000508251.1:p.Val468Met
ENST00000683197.1:c.1402G>A	ENSP00000507641.1:p.Val468Met
ENST00000683411.1:c.994G>A	ENSP00000508397.1:p.Val332Met
ENST00000683437.1:c.994G>A	ENSP00000508408.1:p.Val332Met
ENST00000683613.1:n.2438G>A
ENST00000684663.1:c.1399G>A	ENSP00000508009.1:p.Val467Met
ENST00000324559.9:c.1444G>A MANE Select	ENSP00000315371.9:p.Val482Met
ENST00000648804.1:n.1779G>A
ENST00000324559.8:c.1444G>A	ENSP00000315371.8:p.Val482Met
NM_001142649.1:c.1441G>A	NP_001136121.1:p.Val481Met
NM_213599.2:c.1444G>A , LRG_868t1:c.1444G>A	NP_998764.1:p.Val482Met
XM_005252820.2:c.1402G>A	XP_005252877.2:p.Val468Met
XM_005252821.2:c.1399G>A	XP_005252878.2:p.Val467Met
XM_005252822.3:c.1366G>A	XP_005252879.1:p.Val456Met
XM_005252823.3:c.1363G>A	XP_005252880.1:p.Val455Met
XM_011519949.1:c.1351G>A	XP_011518251.1:p.Val451Met
XM_005252820.3:c.1402G>A	XP_005252877.2:p.Val468Met
XM_005252821.3:c.1399G>A	XP_005252878.2:p.Val467Met
XM_005252822.4:c.1366G>A	XP_005252879.1:p.Val456Met
XM_011519949.2:c.1351G>A	XP_011518251.1:p.Val451Met
NM_001142649.2:c.1441G>A	NP_001136121.1:p.Val481Met
NM_213599.3:c.1444G>A MANE Select	NP_998764.1:p.Val482Met