Canonical Allele Identifier: CA379921385

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22276934T>A (hg19) ; chr11:g.22255388T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255388T>A , CM000673.2:g.22255388T>A	GRCh38
NC_000011.9:g.22276934T>A , CM000673.1:g.22276934T>A	GRCh37
NC_000011.8:g.22233510T>A	NCBI36
NG_015844.1:g.67213T>A , LRG_868:g.67213T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.518T>A
ENST00000682266.1:c.748T>A	ENSP00000507766.1:p.Phe250Ile
ENST00000682341.1:c.1156T>A	ENSP00000508251.1:p.Phe386Ile
ENST00000682530.1:c.*1130T>A	ENSP00000506805.1:n.*1130T>A
ENST00000683197.1:c.1156T>A	ENSP00000507641.1:p.Phe386Ile
ENST00000683411.1:c.748T>A	ENSP00000508397.1:p.Phe250Ile
ENST00000683437.1:c.748T>A	ENSP00000508408.1:p.Phe250Ile
ENST00000683613.1:n.2192T>A
ENST00000683834.1:n.1398T>A
ENST00000684663.1:c.1153T>A	ENSP00000508009.1:p.Phe385Ile
ENST00000324559.9:c.1198T>A MANE Select	ENSP00000315371.9:p.Phe400Ile
ENST00000648804.1:n.1533T>A
ENST00000324559.8:c.1198T>A	ENSP00000315371.8:p.Phe400Ile
NM_001142649.1:c.1195T>A	NP_001136121.1:p.Phe399Ile
NM_213599.2:c.1198T>A , LRG_868t1:c.1198T>A	NP_998764.1:p.Phe400Ile
XM_005252820.2:c.1156T>A	XP_005252877.2:p.Phe386Ile
XM_005252821.2:c.1153T>A	XP_005252878.2:p.Phe385Ile
XM_005252822.3:c.1120T>A	XP_005252879.1:p.Phe374Ile
XM_005252823.3:c.1117T>A	XP_005252880.1:p.Phe373Ile
XM_011519949.1:c.1105T>A	XP_011518251.1:p.Phe369Ile
XM_005252820.3:c.1156T>A	XP_005252877.2:p.Phe386Ile
XM_005252821.3:c.1153T>A	XP_005252878.2:p.Phe385Ile
XM_005252822.4:c.1120T>A	XP_005252879.1:p.Phe374Ile
XM_011519949.2:c.1105T>A	XP_011518251.1:p.Phe369Ile
NM_001142649.2:c.1195T>A	NP_001136121.1:p.Phe399Ile
NM_213599.3:c.1198T>A MANE Select	NP_998764.1:p.Phe400Ile