Canonical Allele Identifier: CA5923281

Gene: ANO5

Linked Data

• dbSNP Id: rs753656282
• ExAC: 11:22281216 G / A
• gnomAD v2: 11-22281216-G-A
• gnomAD v4: 11-22259670-G-A
• MyVariant Identifiers: chr11:g.22281216G>A (hg19) ; chr11:g.22259670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259670G>A , CM000673.2:g.22259670G>A	GRCh38
NC_000011.9:g.22281216G>A , CM000673.1:g.22281216G>A	GRCh37
NC_000011.8:g.22237792G>A	NCBI36
NG_015844.1:g.71495G>A , LRG_868:g.71495G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1109G>A	ENSP00000507766.1:p.Cys370Tyr
ENST00000682341.1:c.1517G>A	ENSP00000508251.1:p.Cys506Tyr
ENST00000683197.1:c.1517G>A	ENSP00000507641.1:p.Cys506Tyr
ENST00000683411.1:c.1109G>A	ENSP00000508397.1:p.Cys370Tyr
ENST00000683437.1:c.1109G>A	ENSP00000508408.1:p.Cys370Tyr
ENST00000683613.1:n.2553G>A
ENST00000684663.1:c.1514G>A	ENSP00000508009.1:p.Cys505Tyr
ENST00000324559.9:c.1559G>A MANE Select	ENSP00000315371.9:p.Cys520Tyr
ENST00000648804.1:n.1894G>A
ENST00000324559.8:c.1559G>A	ENSP00000315371.8:p.Cys520Tyr
NM_001142649.1:c.1556G>A	NP_001136121.1:p.Cys519Tyr
NM_213599.2:c.1559G>A , LRG_868t1:c.1559G>A	NP_998764.1:p.Cys520Tyr
XM_005252820.2:c.1517G>A	XP_005252877.2:p.Cys506Tyr
XM_005252821.2:c.1514G>A	XP_005252878.2:p.Cys505Tyr
XM_005252822.3:c.1481G>A	XP_005252879.1:p.Cys494Tyr
XM_005252823.3:c.1478G>A	XP_005252880.1:p.Cys493Tyr
XM_011519949.1:c.1466G>A	XP_011518251.1:p.Cys489Tyr
XM_005252820.3:c.1517G>A	XP_005252877.2:p.Cys506Tyr
XM_005252821.3:c.1514G>A	XP_005252878.2:p.Cys505Tyr
XM_005252822.4:c.1481G>A	XP_005252879.1:p.Cys494Tyr
XM_011519949.2:c.1466G>A	XP_011518251.1:p.Cys489Tyr
NM_001142649.2:c.1556G>A	NP_001136121.1:p.Cys519Tyr
NM_213599.3:c.1559G>A MANE Select	NP_998764.1:p.Cys520Tyr