Canonical Allele Identifier: CA379922146

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22281148T>A (hg19) ; chr11:g.22259602T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259602T>A , CM000673.2:g.22259602T>A	GRCh38
NC_000011.9:g.22281148T>A , CM000673.1:g.22281148T>A	GRCh37
NC_000011.8:g.22237724T>A	NCBI36
NG_015844.1:g.71427T>A , LRG_868:g.71427T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.1041T>A	ENSP00000507766.1:p.Ser347Arg
ENST00000682341.1:c.1449T>A	ENSP00000508251.1:p.Ser483Arg
ENST00000683197.1:c.1449T>A	ENSP00000507641.1:p.Ser483Arg
ENST00000683411.1:c.1041T>A	ENSP00000508397.1:p.Ser347Arg
ENST00000683437.1:c.1041T>A	ENSP00000508408.1:p.Ser347Arg
ENST00000683613.1:n.2485T>A
ENST00000684663.1:c.1446T>A	ENSP00000508009.1:p.Ser482Arg
ENST00000324559.9:c.1491T>A MANE Select	ENSP00000315371.9:p.Ser497Arg
ENST00000648804.1:n.1826T>A
ENST00000324559.8:c.1491T>A	ENSP00000315371.8:p.Ser497Arg
NM_001142649.1:c.1488T>A	NP_001136121.1:p.Ser496Arg
NM_213599.2:c.1491T>A , LRG_868t1:c.1491T>A	NP_998764.1:p.Ser497Arg
XM_005252820.2:c.1449T>A	XP_005252877.2:p.Ser483Arg
XM_005252821.2:c.1446T>A	XP_005252878.2:p.Ser482Arg
XM_005252822.3:c.1413T>A	XP_005252879.1:p.Ser471Arg
XM_005252823.3:c.1410T>A	XP_005252880.1:p.Ser470Arg
XM_011519949.1:c.1398T>A	XP_011518251.1:p.Ser466Arg
XM_005252820.3:c.1449T>A	XP_005252877.2:p.Ser483Arg
XM_005252821.3:c.1446T>A	XP_005252878.2:p.Ser482Arg
XM_005252822.4:c.1413T>A	XP_005252879.1:p.Ser471Arg
XM_011519949.2:c.1398T>A	XP_011518251.1:p.Ser466Arg
NM_001142649.2:c.1488T>A	NP_001136121.1:p.Ser496Arg
NM_213599.3:c.1491T>A MANE Select	NP_998764.1:p.Ser497Arg