Canonical Allele Identifier: CA379920893

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22271902A>T (hg19) ; chr11:g.22250356A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250356A>T , CM000673.2:g.22250356A>T	GRCh38
NC_000011.9:g.22271902A>T , CM000673.1:g.22271902A>T	GRCh37
NC_000011.8:g.22228478A>T	NCBI36
NG_015844.1:g.62181A>T , LRG_868:g.62181A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.318A>T
ENST00000682266.1:c.548A>T	ENSP00000507766.1:p.Glu183Val
ENST00000682341.1:c.956A>T	ENSP00000508251.1:p.Glu319Val
ENST00000682530.1:c.*930A>T	ENSP00000506805.1:n.*930A>T
ENST00000683197.1:c.956A>T	ENSP00000507641.1:p.Glu319Val
ENST00000683411.1:c.548A>T	ENSP00000508397.1:p.Glu183Val
ENST00000683437.1:c.548A>T	ENSP00000508408.1:p.Glu183Val
ENST00000683613.1:n.1992A>T
ENST00000683834.1:n.1198A>T
ENST00000684663.1:c.953A>T	ENSP00000508009.1:p.Glu318Val
ENST00000324559.9:c.998A>T MANE Select	ENSP00000315371.9:p.Glu333Val
ENST00000648804.1:n.1333A>T
ENST00000324559.8:c.998A>T	ENSP00000315371.8:p.Glu333Val
NM_001142649.1:c.995A>T	NP_001136121.1:p.Glu332Val
NM_213599.2:c.998A>T , LRG_868t1:c.998A>T	NP_998764.1:p.Glu333Val
XM_005252820.2:c.956A>T	XP_005252877.2:p.Glu319Val
XM_005252821.2:c.953A>T	XP_005252878.2:p.Glu318Val
XM_005252822.3:c.920A>T	XP_005252879.1:p.Glu307Val
XM_005252823.3:c.917A>T	XP_005252880.1:p.Glu306Val
XM_011519949.1:c.905A>T	XP_011518251.1:p.Glu302Val
XM_005252820.3:c.956A>T	XP_005252877.2:p.Glu319Val
XM_005252821.3:c.953A>T	XP_005252878.2:p.Glu318Val
XM_005252822.4:c.920A>T	XP_005252879.1:p.Glu307Val
XM_011519949.2:c.905A>T	XP_011518251.1:p.Glu302Val
NM_001142649.2:c.995A>T	NP_001136121.1:p.Glu332Val
NM_213599.3:c.998A>T MANE Select	NP_998764.1:p.Glu333Val