Canonical Allele Identifier: CA5923279

Gene: ANO5

Linked Data

• ClinVar Variation Id: 1083496
• ClinVar RCV Id: RCV001400188
• dbSNP Id: rs370241354
• ExAC: 11:22281208 A / G
• gnomAD v2: 11-22281208-A-G
• gnomAD v3: 11-22259662-A-G
• gnomAD v4: 11-22259662-A-G
• MyVariant Identifiers: chr11:g.22281208A>G (hg19) ; chr11:g.22259662A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259662A>G , CM000673.2:g.22259662A>G	GRCh38
NC_000011.9:g.22281208A>G , CM000673.1:g.22281208A>G	GRCh37
NC_000011.8:g.22237784A>G	NCBI36
NG_015844.1:g.71487A>G , LRG_868:g.71487A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1101A>G	ENSP00000507766.1:p.Thr367=
ENST00000682341.1:c.1509A>G	ENSP00000508251.1:p.Thr503=
ENST00000683197.1:c.1509A>G	ENSP00000507641.1:p.Thr503=
ENST00000683411.1:c.1101A>G	ENSP00000508397.1:p.Thr367=
ENST00000683437.1:c.1101A>G	ENSP00000508408.1:p.Thr367=
ENST00000683613.1:n.2545A>G
ENST00000684663.1:c.1506A>G	ENSP00000508009.1:p.Thr502=
ENST00000324559.9:c.1551A>G MANE Select	ENSP00000315371.9:p.Thr517=
ENST00000648804.1:n.1886A>G
ENST00000324559.8:c.1551A>G	ENSP00000315371.8:p.Thr517=
NM_001142649.1:c.1548A>G	NP_001136121.1:p.Thr516=
NM_213599.2:c.1551A>G , LRG_868t1:c.1551A>G	NP_998764.1:p.Thr517=
XM_005252820.2:c.1509A>G	XP_005252877.2:p.Thr503=
XM_005252821.2:c.1506A>G	XP_005252878.2:p.Thr502=
XM_005252822.3:c.1473A>G	XP_005252879.1:p.Thr491=
XM_005252823.3:c.1470A>G	XP_005252880.1:p.Thr490=
XM_011519949.1:c.1458A>G	XP_011518251.1:p.Thr486=
XM_005252820.3:c.1509A>G	XP_005252877.2:p.Thr503=
XM_005252821.3:c.1506A>G	XP_005252878.2:p.Thr502=
XM_005252822.4:c.1473A>G	XP_005252879.1:p.Thr491=
XM_011519949.2:c.1458A>G	XP_011518251.1:p.Thr486=
NM_001142649.2:c.1548A>G	NP_001136121.1:p.Thr516=
NM_213599.3:c.1551A>G MANE Select	NP_998764.1:p.Thr517=