Canonical Allele Identifier: CA379921621

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22277037G>A (hg19) ; chr11:g.22255491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255491G>A , CM000673.2:g.22255491G>A	GRCh38
NC_000011.9:g.22277037G>A , CM000673.1:g.22277037G>A	GRCh37
NC_000011.8:g.22233613G>A	NCBI36
NG_015844.1:g.67316G>A , LRG_868:g.67316G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.621G>A
ENST00000682266.1:c.851G>A	ENSP00000507766.1:p.Cys284Tyr
ENST00000682341.1:c.1259G>A	ENSP00000508251.1:p.Cys420Tyr
ENST00000682530.1:c.*1233G>A	ENSP00000506805.1:n.*1233G>A
ENST00000683197.1:c.1259G>A	ENSP00000507641.1:p.Cys420Tyr
ENST00000683411.1:c.851G>A	ENSP00000508397.1:p.Cys284Tyr
ENST00000683437.1:c.851G>A	ENSP00000508408.1:p.Cys284Tyr
ENST00000683613.1:n.2295G>A
ENST00000683834.1:n.1501G>A
ENST00000684663.1:c.1256G>A	ENSP00000508009.1:p.Cys419Tyr
ENST00000324559.9:c.1301G>A MANE Select	ENSP00000315371.9:p.Cys434Tyr
ENST00000648804.1:n.1636G>A
ENST00000324559.8:c.1301G>A	ENSP00000315371.8:p.Cys434Tyr
NM_001142649.1:c.1298G>A	NP_001136121.1:p.Cys433Tyr
NM_213599.2:c.1301G>A , LRG_868t1:c.1301G>A	NP_998764.1:p.Cys434Tyr
XM_005252820.2:c.1259G>A	XP_005252877.2:p.Cys420Tyr
XM_005252821.2:c.1256G>A	XP_005252878.2:p.Cys419Tyr
XM_005252822.3:c.1223G>A	XP_005252879.1:p.Cys408Tyr
XM_005252823.3:c.1220G>A	XP_005252880.1:p.Cys407Tyr
XM_011519949.1:c.1208G>A	XP_011518251.1:p.Cys403Tyr
XM_005252820.3:c.1259G>A	XP_005252877.2:p.Cys420Tyr
XM_005252821.3:c.1256G>A	XP_005252878.2:p.Cys419Tyr
XM_005252822.4:c.1223G>A	XP_005252879.1:p.Cys408Tyr
XM_011519949.2:c.1208G>A	XP_011518251.1:p.Cys403Tyr
NM_001142649.2:c.1298G>A	NP_001136121.1:p.Cys433Tyr
NM_213599.3:c.1301G>A MANE Select	NP_998764.1:p.Cys434Tyr