Canonical Allele Identifier: CA5923365

Gene: ANO5

Linked Data

• ClinVar Variation Id: 304103
• ClinVar RCV Id: RCV000367137 ; RCV000392994 ; RCV001108797 ; RCV000732775 ; RCV001078627 ; RCV004537713
• dbSNP Id: rs202034123
• ExAC: 11:22284483 T / C
• gnomAD v2: 11-22284483-T-C
• gnomAD v3: 11-22262937-T-C
• gnomAD v4: 11-22262937-T-C
• MyVariant Identifiers: chr11:g.22284483T>C (hg19) ; chr11:g.22262937T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22262937T>C , CM000673.2:g.22262937T>C	GRCh38
NC_000011.9:g.22284483T>C , CM000673.1:g.22284483T>C	GRCh37
NC_000011.8:g.22241059T>C	NCBI36
NG_015844.1:g.74762T>C , LRG_868:g.74762T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.1351-9T>C	ENSP00000507766.1:n.1351-9T>C
ENST00000682341.1:c.1759-9T>C	ENSP00000508251.1:n.1759-9T>C
ENST00000683197.1:c.1759-9T>C	ENSP00000507641.1:n.1759-9T>C
ENST00000683411.1:c.1351-9T>C	ENSP00000508397.1:n.1351-9T>C
ENST00000683437.1:c.1351-9T>C	ENSP00000508408.1:n.1351-9T>C
ENST00000683613.1:n.2795-9T>C
ENST00000684663.1:c.1756-9T>C	ENSP00000508009.1:n.1756-9T>C
ENST00000324559.9:c.1801-9T>C MANE Select	ENSP00000315371.9:n.1801-9T>C
ENST00000648804.1:n.2136-9T>C
ENST00000324559.8:c.1801-9T>C	ENSP00000315371.8:n.1801-9T>C
NM_001142649.1:c.1798-9T>C	NP_001136121.1:n.1798-9T>C
NM_213599.2:c.1801-9T>C , LRG_868t1:c.1801-9T>C	NP_998764.1:n.1801-9T>C
XM_005252820.2:c.1759-9T>C	XP_005252877.2:n.1759-9T>C
XM_005252821.2:c.1756-9T>C	XP_005252878.2:n.1756-9T>C
XM_005252822.3:c.1723-9T>C	XP_005252879.1:n.1723-9T>C
XM_005252823.3:c.1720-9T>C	XP_005252880.1:n.1720-9T>C
XM_011519949.1:c.1708-9T>C	XP_011518251.1:n.1708-9T>C
XM_005252820.3:c.1759-9T>C	XP_005252877.2:n.1759-9T>C
XM_005252821.3:c.1756-9T>C	XP_005252878.2:n.1756-9T>C
XM_005252822.4:c.1723-9T>C	XP_005252879.1:n.1723-9T>C
XM_011519949.2:c.1708-9T>C	XP_011518251.1:n.1708-9T>C
NM_001142649.2:c.1798-9T>C	NP_001136121.1:n.1798-9T>C
NM_213599.3:c.1801-9T>C MANE Select	NP_998764.1:n.1801-9T>C