Canonical Allele Identifier: CA598389485

Gene: ANO5

Linked Data

• dbSNP Id: rs1447935230
• gnomAD v2: 11-22294318-T-A
• gnomAD v3: 11-22272772-T-A
• gnomAD v4: 11-22272772-T-A
• MyVariant Identifiers: chr11:g.22294318T>A (hg19) ; chr11:g.22272772T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272772T>A , CM000673.2:g.22272772T>A	GRCh38
NC_000011.9:g.22294318T>A , CM000673.1:g.22294318T>A	GRCh37
NC_000011.8:g.22250894T>A	NCBI36
NG_015844.1:g.84597T>A , LRG_868:g.84597T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.47-12T>A
ENST00000682266.1:c.1580-12T>A	ENSP00000507766.1:n.1580-12T>A
ENST00000682341.1:c.1988-12T>A	ENSP00000508251.1:n.1988-12T>A
ENST00000683197.1:c.1988-12T>A	ENSP00000507641.1:n.1988-12T>A
ENST00000683411.1:c.1580-12T>A	ENSP00000508397.1:n.1580-12T>A
ENST00000683437.1:c.1580-12T>A	ENSP00000508408.1:n.1580-12T>A
ENST00000683613.1:n.3024-12T>A
ENST00000684663.1:c.1985-12T>A	ENSP00000508009.1:n.1985-12T>A
ENST00000324559.9:c.2030-12T>A MANE Select	ENSP00000315371.9:n.2030-12T>A
ENST00000648804.1:n.2365-12T>A
ENST00000324559.8:c.2030-12T>A	ENSP00000315371.8:n.2030-12T>A
ENST00000532043.1:n.47-12T>A
NM_001142649.1:c.2027-12T>A	NP_001136121.1:n.2027-12T>A
NM_213599.2:c.2030-12T>A , LRG_868t1:c.2030-12T>A	NP_998764.1:n.2030-12T>A
XM_005252820.2:c.1988-12T>A	XP_005252877.2:n.1988-12T>A
XM_005252821.2:c.1985-12T>A	XP_005252878.2:n.1985-12T>A
XM_005252822.3:c.1952-12T>A	XP_005252879.1:n.1952-12T>A
XM_005252823.3:c.1949-12T>A	XP_005252880.1:n.1949-12T>A
XM_011519949.1:c.1937-12T>A	XP_011518251.1:n.1937-12T>A
XM_005252820.3:c.1988-12T>A	XP_005252877.2:n.1988-12T>A
XM_005252821.3:c.1985-12T>A	XP_005252878.2:n.1985-12T>A
XM_005252822.4:c.1952-12T>A	XP_005252879.1:n.1952-12T>A
XM_011519949.2:c.1937-12T>A	XP_011518251.1:n.1937-12T>A
NM_001142649.2:c.2027-12T>A	NP_001136121.1:n.2027-12T>A
NM_213599.3:c.2030-12T>A MANE Select	NP_998764.1:n.2030-12T>A