Canonical Allele Identifier: CA379922165

Gene: ANO5

Linked Data

• ClinVar Variation Id: 2137032
• ClinVar RCV Id: RCV003058295
• MyVariant Identifiers: chr11:g.22281156C>T (hg19) ; chr11:g.22259610C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259610C>T , CM000673.2:g.22259610C>T	GRCh38
NC_000011.9:g.22281156C>T , CM000673.1:g.22281156C>T	GRCh37
NC_000011.8:g.22237732C>T	NCBI36
NG_015844.1:g.71435C>T , LRG_868:g.71435C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.1049C>T	ENSP00000507766.1:p.Ser350Phe
ENST00000682341.1:c.1457C>T	ENSP00000508251.1:p.Ser486Phe
ENST00000683197.1:c.1457C>T	ENSP00000507641.1:p.Ser486Phe
ENST00000683411.1:c.1049C>T	ENSP00000508397.1:p.Ser350Phe
ENST00000683437.1:c.1049C>T	ENSP00000508408.1:p.Ser350Phe
ENST00000683613.1:n.2493C>T
ENST00000684663.1:c.1454C>T	ENSP00000508009.1:p.Ser485Phe
ENST00000324559.9:c.1499C>T MANE Select	ENSP00000315371.9:p.Ser500Phe
ENST00000648804.1:n.1834C>T
ENST00000324559.8:c.1499C>T	ENSP00000315371.8:p.Ser500Phe
NM_001142649.1:c.1496C>T	NP_001136121.1:p.Ser499Phe
NM_213599.2:c.1499C>T , LRG_868t1:c.1499C>T	NP_998764.1:p.Ser500Phe
XM_005252820.2:c.1457C>T	XP_005252877.2:p.Ser486Phe
XM_005252821.2:c.1454C>T	XP_005252878.2:p.Ser485Phe
XM_005252822.3:c.1421C>T	XP_005252879.1:p.Ser474Phe
XM_005252823.3:c.1418C>T	XP_005252880.1:p.Ser473Phe
XM_011519949.1:c.1406C>T	XP_011518251.1:p.Ser469Phe
XM_005252820.3:c.1457C>T	XP_005252877.2:p.Ser486Phe
XM_005252821.3:c.1454C>T	XP_005252878.2:p.Ser485Phe
XM_005252822.4:c.1421C>T	XP_005252879.1:p.Ser474Phe
XM_011519949.2:c.1406C>T	XP_011518251.1:p.Ser469Phe
NM_001142649.2:c.1496C>T	NP_001136121.1:p.Ser499Phe
NM_213599.3:c.1499C>T MANE Select	NP_998764.1:p.Ser500Phe