Canonical Allele Identifier: CA5923405

Gene: ANO5

Linked Data

• ClinVar Variation Id: 468836
• ClinVar RCV Id: RCV000557341
• dbSNP Id: rs540339861
• ExAC: 11:22291863 C / T
• gnomAD v2: 11-22291863-C-T
• gnomAD v3: 11-22270317-C-T
• gnomAD v4: 11-22270317-C-T
• MyVariant Identifiers: chr11:g.22291863C>T (hg19) ; chr11:g.22270317C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22270317C>T , CM000673.2:g.22270317C>T	GRCh38
NC_000011.9:g.22291863C>T , CM000673.1:g.22291863C>T	GRCh37
NC_000011.8:g.22248439C>T	NCBI36
NG_015844.1:g.82142C>T , LRG_868:g.82142C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1454C>T	ENSP00000507766.1:p.Ala485Val
ENST00000682341.1:c.1862C>T	ENSP00000508251.1:p.Ala621Val
ENST00000683197.1:c.1862C>T	ENSP00000507641.1:p.Ala621Val
ENST00000683411.1:c.1454C>T	ENSP00000508397.1:p.Ala485Val
ENST00000683437.1:c.1454C>T	ENSP00000508408.1:p.Ala485Val
ENST00000683613.1:n.2898C>T
ENST00000684663.1:c.1859C>T	ENSP00000508009.1:p.Ala620Val
ENST00000324559.9:c.1904C>T MANE Select	ENSP00000315371.9:p.Ala635Val
ENST00000648804.1:n.2239C>T
ENST00000324559.8:c.1904C>T	ENSP00000315371.8:p.Ala635Val
NM_001142649.1:c.1901C>T	NP_001136121.1:p.Ala634Val
NM_213599.2:c.1904C>T , LRG_868t1:c.1904C>T	NP_998764.1:p.Ala635Val
XM_005252820.2:c.1862C>T	XP_005252877.2:p.Ala621Val
XM_005252821.2:c.1859C>T	XP_005252878.2:p.Ala620Val
XM_005252822.3:c.1826C>T	XP_005252879.1:p.Ala609Val
XM_005252823.3:c.1823C>T	XP_005252880.1:p.Ala608Val
XM_011519949.1:c.1811C>T	XP_011518251.1:p.Ala604Val
XM_005252820.3:c.1862C>T	XP_005252877.2:p.Ala621Val
XM_005252821.3:c.1859C>T	XP_005252878.2:p.Ala620Val
XM_005252822.4:c.1826C>T	XP_005252879.1:p.Ala609Val
XM_011519949.2:c.1811C>T	XP_011518251.1:p.Ala604Val
NM_001142649.2:c.1901C>T	NP_001136121.1:p.Ala634Val
NM_213599.3:c.1904C>T MANE Select	NP_998764.1:p.Ala635Val