Canonical Allele Identifier: CA379923591

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22294345T>A (hg19) ; chr11:g.22272799T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272799T>A , CM000673.2:g.22272799T>A	GRCh38
NC_000011.9:g.22294345T>A , CM000673.1:g.22294345T>A	GRCh37
NC_000011.8:g.22250921T>A	NCBI36
NG_015844.1:g.84624T>A , LRG_868:g.84624T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.62T>A
ENST00000682266.1:c.1595T>A	ENSP00000507766.1:p.Phe532Tyr
ENST00000682341.1:c.2003T>A	ENSP00000508251.1:p.Phe668Tyr
ENST00000683197.1:c.2003T>A	ENSP00000507641.1:p.Phe668Tyr
ENST00000683411.1:c.1595T>A	ENSP00000508397.1:p.Phe532Tyr
ENST00000683437.1:c.1595T>A	ENSP00000508408.1:p.Phe532Tyr
ENST00000683613.1:n.3039T>A
ENST00000684663.1:c.2000T>A	ENSP00000508009.1:p.Phe667Tyr
ENST00000324559.9:c.2045T>A MANE Select	ENSP00000315371.9:p.Phe682Tyr
ENST00000648804.1:n.2380T>A
ENST00000324559.8:c.2045T>A	ENSP00000315371.8:p.Phe682Tyr
ENST00000532043.1:n.62T>A
NM_001142649.1:c.2042T>A	NP_001136121.1:p.Phe681Tyr
NM_213599.2:c.2045T>A , LRG_868t1:c.2045T>A	NP_998764.1:p.Phe682Tyr
XM_005252820.2:c.2003T>A	XP_005252877.2:p.Phe668Tyr
XM_005252821.2:c.2000T>A	XP_005252878.2:p.Phe667Tyr
XM_005252822.3:c.1967T>A	XP_005252879.1:p.Phe656Tyr
XM_005252823.3:c.1964T>A	XP_005252880.1:p.Phe655Tyr
XM_011519949.1:c.1952T>A	XP_011518251.1:p.Phe651Tyr
XM_005252820.3:c.2003T>A	XP_005252877.2:p.Phe668Tyr
XM_005252821.3:c.2000T>A	XP_005252878.2:p.Phe667Tyr
XM_005252822.4:c.1967T>A	XP_005252879.1:p.Phe656Tyr
XM_011519949.2:c.1952T>A	XP_011518251.1:p.Phe651Tyr
NM_001142649.2:c.2042T>A	NP_001136121.1:p.Phe681Tyr
NM_213599.3:c.2045T>A MANE Select	NP_998764.1:p.Phe682Tyr