Canonical Allele Identifier: CA10606250

Gene: ANO5

Linked Data

• ClinVar Variation Id: 288853
• ClinVar RCV Id: RCV000487292 ; RCV000553314
• dbSNP Id: rs281865467
• MyVariant Identifiers: chr11:g.22281195C>T (hg19) ; chr11:g.22259649C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259649C>T , CM000673.2:g.22259649C>T	GRCh38
NC_000011.9:g.22281195C>T , CM000673.1:g.22281195C>T	GRCh37
NC_000011.8:g.22237771C>T	NCBI36
NG_015844.1:g.71474C>T , LRG_868:g.71474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.1088C>T	ENSP00000507766.1:p.Thr363Ile
ENST00000682341.1:c.1496C>T	ENSP00000508251.1:p.Thr499Ile
ENST00000683197.1:c.1496C>T	ENSP00000507641.1:p.Thr499Ile
ENST00000683411.1:c.1088C>T	ENSP00000508397.1:p.Thr363Ile
ENST00000683437.1:c.1088C>T	ENSP00000508408.1:p.Thr363Ile
ENST00000683613.1:n.2532C>T
ENST00000684663.1:c.1493C>T	ENSP00000508009.1:p.Thr498Ile
ENST00000324559.9:c.1538C>T MANE Select	ENSP00000315371.9:p.Thr513Ile
ENST00000648804.1:n.1873C>T
ENST00000324559.8:c.1538C>T	ENSP00000315371.8:p.Thr513Ile
NM_001142649.1:c.1535C>T	NP_001136121.1:p.Thr512Ile
NM_213599.2:c.1538C>T , LRG_868t1:c.1538C>T	NP_998764.1:p.Thr513Ile
XM_005252820.2:c.1496C>T	XP_005252877.2:p.Thr499Ile
XM_005252821.2:c.1493C>T	XP_005252878.2:p.Thr498Ile
XM_005252822.3:c.1460C>T	XP_005252879.1:p.Thr487Ile
XM_005252823.3:c.1457C>T	XP_005252880.1:p.Thr486Ile
XM_011519949.1:c.1445C>T	XP_011518251.1:p.Thr482Ile
XM_005252820.3:c.1496C>T	XP_005252877.2:p.Thr499Ile
XM_005252821.3:c.1493C>T	XP_005252878.2:p.Thr498Ile
XM_005252822.4:c.1460C>T	XP_005252879.1:p.Thr487Ile
XM_011519949.2:c.1445C>T	XP_011518251.1:p.Thr482Ile
NM_001142649.2:c.1535C>T	NP_001136121.1:p.Thr512Ile
NM_213599.3:c.1538C>T MANE Select	NP_998764.1:p.Thr513Ile