Canonical Allele Identifier: CA473402387

Gene: ANO5

Linked Data

• ClinVar Variation Id: 2426829
• ClinVar RCV Id: RCV003122662
• dbSNP Id: rs1853211196
• MyVariant Identifiers: chr11:g.22257723C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22236177C>T , CM000673.2:g.22236177C>T	GRCh38
NC_000011.9:g.22257723C>T , CM000673.1:g.22257723C>T	GRCh37
NC_000011.8:g.22214299C>T	NCBI36
NG_015844.1:g.48002C>T , LRG_868:g.48002C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.213C>T	ENSP00000507766.1:p.Leu71=
ENST00000682341.1:c.621C>T	ENSP00000508251.1:p.Leu207=
ENST00000682530.1:c.*595C>T	ENSP00000506805.1:n.*595C>T
ENST00000682684.1:n.1042C>T
ENST00000683197.1:c.621C>T	ENSP00000507641.1:p.Leu207=
ENST00000683411.1:c.213C>T	ENSP00000508397.1:p.Leu71=
ENST00000683437.1:c.213C>T	ENSP00000508408.1:p.Leu71=
ENST00000683613.1:n.1657C>T
ENST00000683834.1:n.863C>T
ENST00000684663.1:c.618C>T	ENSP00000508009.1:p.Leu206=
ENST00000324559.9:c.663C>T MANE Select	ENSP00000315371.9:p.Leu221=
ENST00000648804.1:n.1213+8591C>T
ENST00000324559.8:c.663C>T	ENSP00000315371.8:p.Leu221=
NM_001142649.1:c.660C>T	NP_001136121.1:p.Leu220=
NM_213599.2:c.663C>T , LRG_868t1:c.663C>T	NP_998764.1:p.Leu221=
XM_005252820.2:c.621C>T	XP_005252877.2:p.Leu207=
XM_005252821.2:c.618C>T	XP_005252878.2:p.Leu206=
XM_005252822.3:c.585C>T	XP_005252879.1:p.Leu195=
XM_005252823.3:c.582C>T	XP_005252880.1:p.Leu194=
XM_011519949.1:c.570C>T	XP_011518251.1:p.Leu190=
XM_005252820.3:c.621C>T	XP_005252877.2:p.Leu207=
XM_005252821.3:c.618C>T	XP_005252878.2:p.Leu206=
XM_005252822.4:c.585C>T	XP_005252879.1:p.Leu195=
XM_011519949.2:c.570C>T	XP_011518251.1:p.Leu190=
NM_001142649.2:c.660C>T	NP_001136121.1:p.Leu220=
NM_213599.3:c.663C>T MANE Select	NP_998764.1:p.Leu221=