Canonical Allele Identifier: CA5923082

Gene: ANO5

Linked Data

• dbSNP Id: rs746511547
• ExAC: 11:22271871 G / A
• gnomAD v2: 11-22271871-G-A
• MyVariant Identifiers: chr11:g.22271871G>A (hg19) ; chr11:g.22250325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250325G>A , CM000673.2:g.22250325G>A	GRCh38
NC_000011.9:g.22271871G>A , CM000673.1:g.22271871G>A	GRCh37
NC_000011.8:g.22228447G>A	NCBI36
NG_015844.1:g.62150G>A , LRG_868:g.62150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.287G>A
ENST00000682266.1:c.517G>A	ENSP00000507766.1:p.Ala173Thr
ENST00000682341.1:c.925G>A	ENSP00000508251.1:p.Ala309Thr
ENST00000682530.1:c.*899G>A	ENSP00000506805.1:n.*899G>A
ENST00000683197.1:c.925G>A	ENSP00000507641.1:p.Ala309Thr
ENST00000683411.1:c.517G>A	ENSP00000508397.1:p.Ala173Thr
ENST00000683437.1:c.517G>A	ENSP00000508408.1:p.Ala173Thr
ENST00000683613.1:n.1961G>A
ENST00000683834.1:n.1167G>A
ENST00000684663.1:c.922G>A	ENSP00000508009.1:p.Ala308Thr
ENST00000324559.9:c.967G>A MANE Select	ENSP00000315371.9:p.Ala323Thr
ENST00000648804.1:n.1302G>A
ENST00000324559.8:c.967G>A	ENSP00000315371.8:p.Ala323Thr
NM_001142649.1:c.964G>A	NP_001136121.1:p.Ala322Thr
NM_213599.2:c.967G>A , LRG_868t1:c.967G>A	NP_998764.1:p.Ala323Thr
XM_005252820.2:c.925G>A	XP_005252877.2:p.Ala309Thr
XM_005252821.2:c.922G>A	XP_005252878.2:p.Ala308Thr
XM_005252822.3:c.889G>A	XP_005252879.1:p.Ala297Thr
XM_005252823.3:c.886G>A	XP_005252880.1:p.Ala296Thr
XM_011519949.1:c.874G>A	XP_011518251.1:p.Ala292Thr
XM_005252820.3:c.925G>A	XP_005252877.2:p.Ala309Thr
XM_005252821.3:c.922G>A	XP_005252878.2:p.Ala308Thr
XM_005252822.4:c.889G>A	XP_005252879.1:p.Ala297Thr
XM_011519949.2:c.874G>A	XP_011518251.1:p.Ala292Thr
NM_001142649.2:c.964G>A	NP_001136121.1:p.Ala322Thr
NM_213599.3:c.967G>A MANE Select	NP_998764.1:p.Ala323Thr