Canonical Allele Identifier: CA201303

Gene: ANO5

Linked Data

• ClinVar Variation Id: 194688
• ClinVar RCV Id: RCV000175113
• dbSNP Id: rs765262083
• MyVariant Identifiers: chr11:g.22283753C>G (hg19) ; chr11:g.22262207C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22262207C>G , CM000673.2:g.22262207C>G	GRCh38
NC_000011.9:g.22283753C>G , CM000673.1:g.22283753C>G	GRCh37
NC_000011.8:g.22240329C>G	NCBI36
NG_015844.1:g.74032C>G , LRG_868:g.74032C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1259C>G	ENSP00000507766.1:p.Ser420Ter
ENST00000682341.1:c.1667C>G	ENSP00000508251.1:p.Ser556Ter
ENST00000683197.1:c.1667C>G	ENSP00000507641.1:p.Ser556Ter
ENST00000683411.1:c.1259C>G	ENSP00000508397.1:p.Ser420Ter
ENST00000683437.1:c.1259C>G	ENSP00000508408.1:p.Ser420Ter
ENST00000683613.1:n.2703C>G
ENST00000684663.1:c.1664C>G	ENSP00000508009.1:p.Ser555Ter
ENST00000324559.9:c.1709C>G MANE Select	ENSP00000315371.9:p.Ser570Ter
ENST00000648804.1:n.2044C>G
ENST00000324559.8:c.1709C>G	ENSP00000315371.8:p.Ser570Ter
NM_001142649.1:c.1706C>G	NP_001136121.1:p.Ser569Ter
NM_213599.2:c.1709C>G , LRG_868t1:c.1709C>G	NP_998764.1:p.Ser570Ter
XM_005252820.2:c.1667C>G	XP_005252877.2:p.Ser556Ter
XM_005252821.2:c.1664C>G	XP_005252878.2:p.Ser555Ter
XM_005252822.3:c.1631C>G	XP_005252879.1:p.Ser544Ter
XM_005252823.3:c.1628C>G	XP_005252880.1:p.Ser543Ter
XM_011519949.1:c.1616C>G	XP_011518251.1:p.Ser539Ter
XM_005252820.3:c.1667C>G	XP_005252877.2:p.Ser556Ter
XM_005252821.3:c.1664C>G	XP_005252878.2:p.Ser555Ter
XM_005252822.4:c.1631C>G	XP_005252879.1:p.Ser544Ter
XM_011519949.2:c.1616C>G	XP_011518251.1:p.Ser539Ter
NM_001142649.2:c.1706C>G	NP_001136121.1:p.Ser569Ter
NM_213599.3:c.1709C>G MANE Select	NP_998764.1:p.Ser570Ter