Canonical Allele Identifier: CA10604491

Gene: ANO5

Linked Data

• ClinVar Variation Id: 283444
• ClinVar RCV Id: RCV001106645 ; RCV002521899
• dbSNP Id: rs886042624
• gnomAD v2: 11-22281205-C-T
• gnomAD v4: 11-22259659-C-T
• MyVariant Identifiers: chr11:g.22281205C>T (hg19) ; chr11:g.22259659C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259659C>T , CM000673.2:g.22259659C>T	GRCh38
NC_000011.9:g.22281205C>T , CM000673.1:g.22281205C>T	GRCh37
NC_000011.8:g.22237781C>T	NCBI36
NG_015844.1:g.71484C>T , LRG_868:g.71484C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1098C>T	ENSP00000507766.1:p.Leu366=
ENST00000682341.1:c.1506C>T	ENSP00000508251.1:p.Leu502=
ENST00000683197.1:c.1506C>T	ENSP00000507641.1:p.Leu502=
ENST00000683411.1:c.1098C>T	ENSP00000508397.1:p.Leu366=
ENST00000683437.1:c.1098C>T	ENSP00000508408.1:p.Leu366=
ENST00000683613.1:n.2542C>T
ENST00000684663.1:c.1503C>T	ENSP00000508009.1:p.Leu501=
ENST00000324559.9:c.1548C>T MANE Select	ENSP00000315371.9:p.Leu516=
ENST00000648804.1:n.1883C>T
ENST00000324559.8:c.1548C>T	ENSP00000315371.8:p.Leu516=
NM_001142649.1:c.1545C>T	NP_001136121.1:p.Leu515=
NM_213599.2:c.1548C>T , LRG_868t1:c.1548C>T	NP_998764.1:p.Leu516=
XM_005252820.2:c.1506C>T	XP_005252877.2:p.Leu502=
XM_005252821.2:c.1503C>T	XP_005252878.2:p.Leu501=
XM_005252822.3:c.1470C>T	XP_005252879.1:p.Leu490=
XM_005252823.3:c.1467C>T	XP_005252880.1:p.Leu489=
XM_011519949.1:c.1455C>T	XP_011518251.1:p.Leu485=
XM_005252820.3:c.1506C>T	XP_005252877.2:p.Leu502=
XM_005252821.3:c.1503C>T	XP_005252878.2:p.Leu501=
XM_005252822.4:c.1470C>T	XP_005252879.1:p.Leu490=
XM_011519949.2:c.1455C>T	XP_011518251.1:p.Leu485=
NM_001142649.2:c.1545C>T	NP_001136121.1:p.Leu515=
NM_213599.3:c.1548C>T MANE Select	NP_998764.1:p.Leu516=