Canonical Allele Identifier: CA379922958

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22284532T>A (hg19) ; chr11:g.22262986T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22262986T>A , CM000673.2:g.22262986T>A	GRCh38
NC_000011.9:g.22284532T>A , CM000673.1:g.22284532T>A	GRCh37
NC_000011.8:g.22241108T>A	NCBI36
NG_015844.1:g.74811T>A , LRG_868:g.74811T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1391T>A	ENSP00000507766.1:p.Leu464Ter
ENST00000682341.1:c.1799T>A	ENSP00000508251.1:p.Leu600Ter
ENST00000683197.1:c.1799T>A	ENSP00000507641.1:p.Leu600Ter
ENST00000683411.1:c.1391T>A	ENSP00000508397.1:p.Leu464Ter
ENST00000683437.1:c.1391T>A	ENSP00000508408.1:p.Leu464Ter
ENST00000683613.1:n.2835T>A
ENST00000684663.1:c.1796T>A	ENSP00000508009.1:p.Leu599Ter
ENST00000324559.9:c.1841T>A MANE Select	ENSP00000315371.9:p.Leu614Ter
ENST00000648804.1:n.2176T>A
ENST00000324559.8:c.1841T>A	ENSP00000315371.8:p.Leu614Ter
NM_001142649.1:c.1838T>A	NP_001136121.1:p.Leu613Ter
NM_213599.2:c.1841T>A , LRG_868t1:c.1841T>A	NP_998764.1:p.Leu614Ter
XM_005252820.2:c.1799T>A	XP_005252877.2:p.Leu600Ter
XM_005252821.2:c.1796T>A	XP_005252878.2:p.Leu599Ter
XM_005252822.3:c.1763T>A	XP_005252879.1:p.Leu588Ter
XM_005252823.3:c.1760T>A	XP_005252880.1:p.Leu587Ter
XM_011519949.1:c.1748T>A	XP_011518251.1:p.Leu583Ter
XM_005252820.3:c.1799T>A	XP_005252877.2:p.Leu600Ter
XM_005252821.3:c.1796T>A	XP_005252878.2:p.Leu599Ter
XM_005252822.4:c.1763T>A	XP_005252879.1:p.Leu588Ter
XM_011519949.2:c.1748T>A	XP_011518251.1:p.Leu583Ter
NM_001142649.2:c.1838T>A	NP_001136121.1:p.Leu613Ter
NM_213599.3:c.1841T>A MANE Select	NP_998764.1:p.Leu614Ter