Canonical Allele Identifier: CA232780

Gene: ANO5

Linked Data

• ClinVar Variation Id: 140547
• ClinVar RCV Id: RCV000128768 ; RCV001553821 ; RCV001553822 ; RCV001553823
• dbSNP Id: rs4922980
• gnomAD v2: 11-22233029-G-A
• gnomAD v3: 11-22211483-G-A
• gnomAD v4: 11-22211483-G-A
• MyVariant Identifiers: chr11:g.22233029G>A (hg19) ; chr11:g.22211483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22211483G>A , CM000673.2:g.22211483G>A	GRCh38
NC_000011.9:g.22233029G>A , CM000673.1:g.22233029G>A	GRCh37
NC_000011.8:g.22189605G>A	NCBI36
NG_015844.1:g.23308G>A , LRG_868:g.23308G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682084.1:n.3312+169G>A
ENST00000682266.1:c.-271+169G>A	ENSP00000507766.1:n.-271+169G>A
ENST00000682341.1:c.138+169G>A	ENSP00000508251.1:n.138+169G>A
ENST00000682530.1:c.135+169G>A	ENSP00000506805.1:n.135+169G>A
ENST00000682684.1:n.559+169G>A
ENST00000683197.1:c.138+169G>A	ENSP00000507641.1:n.138+169G>A
ENST00000683411.1:c.-332+169G>A	ENSP00000508397.1:n.-332+169G>A
ENST00000683437.1:c.-270-9614G>A	ENSP00000508408.1:n.-270-9614G>A
ENST00000683834.1:n.380+169G>A
ENST00000683897.1:n.424+169G>A
ENST00000684365.1:n.549+169G>A
ENST00000684663.1:c.135+169G>A	ENSP00000508009.1:n.135+169G>A
ENST00000324559.9:c.138+169G>A MANE Select	ENSP00000315371.9:n.138+169G>A
ENST00000648804.1:n.669+169G>A
ENST00000324559.8:c.138+169G>A	ENSP00000315371.8:n.138+169G>A
NM_001142649.1:c.135+169G>A	NP_001136121.1:n.135+169G>A
NM_213599.2:c.138+169G>A , LRG_868t1:c.138+169G>A	NP_998764.1:n.138+169G>A
XM_005252820.2:c.138+169G>A	XP_005252877.2:n.138+169G>A
XM_005252821.2:c.135+169G>A	XP_005252878.2:n.135+169G>A
XM_005252822.3:c.60+169G>A	XP_005252879.1:n.60+169G>A
XM_005252823.3:c.57+169G>A	XP_005252880.1:n.57+169G>A
XM_011519949.1:c.87+7633G>A	XP_011518251.1:n.87+7633G>A
XM_005252820.3:c.138+169G>A	XP_005252877.2:n.138+169G>A
XM_005252821.3:c.135+169G>A	XP_005252878.2:n.135+169G>A
XM_005252822.4:c.60+169G>A	XP_005252879.1:n.60+169G>A
XM_011519949.2:c.87+7633G>A	XP_011518251.1:n.87+7633G>A
NM_001142649.2:c.135+169G>A	NP_001136121.1:n.135+169G>A
NM_213599.3:c.138+169G>A MANE Select	NP_998764.1:n.138+169G>A