Canonical Allele Identifier: CA935859796

Gene: ANO5

Linked Data

• dbSNP Id: rs770313649
• gnomAD v3: 11-22250421-C-G
• gnomAD v4: 11-22250421-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250421C>G , CM000673.2:g.22250421C>G	GRCh38
NC_000011.9:g.22271967C>G , CM000673.1:g.22271967C>G	GRCh37
NC_000011.8:g.22228543C>G	NCBI36
NG_015844.1:g.62246C>G , LRG_868:g.62246C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.333+50C>G
ENST00000682266.1:c.563+50C>G	ENSP00000507766.1:n.563+50C>G
ENST00000682341.1:c.971+50C>G	ENSP00000508251.1:n.971+50C>G
ENST00000682530.1:c.*945+50C>G	ENSP00000506805.1:n.*945+50C>G
ENST00000683197.1:c.971+50C>G	ENSP00000507641.1:n.971+50C>G
ENST00000683411.1:c.563+50C>G	ENSP00000508397.1:n.563+50C>G
ENST00000683437.1:c.563+50C>G	ENSP00000508408.1:n.563+50C>G
ENST00000683613.1:n.2007+50C>G
ENST00000683834.1:n.1213+50C>G
ENST00000684663.1:c.968+50C>G	ENSP00000508009.1:n.968+50C>G
ENST00000324559.9:c.1013+50C>G MANE Select	ENSP00000315371.9:n.1013+50C>G
ENST00000648804.1:n.1348+50C>G
ENST00000324559.8:c.1013+50C>G	ENSP00000315371.8:n.1013+50C>G
NM_001142649.1:c.1010+50C>G	NP_001136121.1:n.1010+50C>G
NM_213599.2:c.1013+50C>G , LRG_868t1:c.1013+50C>G	NP_998764.1:n.1013+50C>G
XM_005252820.2:c.971+50C>G	XP_005252877.2:n.971+50C>G
XM_005252821.2:c.968+50C>G	XP_005252878.2:n.968+50C>G
XM_005252822.3:c.935+50C>G	XP_005252879.1:n.935+50C>G
XM_005252823.3:c.932+50C>G	XP_005252880.1:n.932+50C>G
XM_011519949.1:c.920+50C>G	XP_011518251.1:n.920+50C>G
XM_005252820.3:c.971+50C>G	XP_005252877.2:n.971+50C>G
XM_005252821.3:c.968+50C>G	XP_005252878.2:n.968+50C>G
XM_005252822.4:c.935+50C>G	XP_005252879.1:n.935+50C>G
XM_011519949.2:c.920+50C>G	XP_011518251.1:n.920+50C>G
NM_001142649.2:c.1010+50C>G	NP_001136121.1:n.1010+50C>G
NM_213599.3:c.1013+50C>G MANE Select	NP_998764.1:n.1013+50C>G