Canonical Allele Identifier: CA5923180

Gene: ANO5

Linked Data

• ClinVar Variation Id: 497575
• ClinVar RCV Id: RCV000596996 ; RCV002530991
• dbSNP Id: rs375834855
• ExAC: 11:22276947 G / A
• gnomAD v2: 11-22276947-G-A
• gnomAD v3: 11-22255401-G-A
• gnomAD v4: 11-22255401-G-A
• MyVariant Identifiers: chr11:g.22276947G>A (hg19) ; chr11:g.22255401G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255401G>A , CM000673.2:g.22255401G>A	GRCh38
NC_000011.9:g.22276947G>A , CM000673.1:g.22276947G>A	GRCh37
NC_000011.8:g.22233523G>A	NCBI36
NG_015844.1:g.67226G>A , LRG_868:g.67226G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.531G>A
ENST00000682266.1:c.761G>A	ENSP00000507766.1:p.Arg254Gln
ENST00000682341.1:c.1169G>A	ENSP00000508251.1:p.Arg390Gln
ENST00000682530.1:c.*1143G>A	ENSP00000506805.1:n.*1143G>A
ENST00000683197.1:c.1169G>A	ENSP00000507641.1:p.Arg390Gln
ENST00000683411.1:c.761G>A	ENSP00000508397.1:p.Arg254Gln
ENST00000683437.1:c.761G>A	ENSP00000508408.1:p.Arg254Gln
ENST00000683613.1:n.2205G>A
ENST00000683834.1:n.1411G>A
ENST00000684663.1:c.1166G>A	ENSP00000508009.1:p.Arg389Gln
ENST00000324559.9:c.1211G>A MANE Select	ENSP00000315371.9:p.Arg404Gln
ENST00000648804.1:n.1546G>A
ENST00000324559.8:c.1211G>A	ENSP00000315371.8:p.Arg404Gln
NM_001142649.1:c.1208G>A	NP_001136121.1:p.Arg403Gln
NM_213599.2:c.1211G>A , LRG_868t1:c.1211G>A	NP_998764.1:p.Arg404Gln
XM_005252820.2:c.1169G>A	XP_005252877.2:p.Arg390Gln
XM_005252821.2:c.1166G>A	XP_005252878.2:p.Arg389Gln
XM_005252822.3:c.1133G>A	XP_005252879.1:p.Arg378Gln
XM_005252823.3:c.1130G>A	XP_005252880.1:p.Arg377Gln
XM_011519949.1:c.1118G>A	XP_011518251.1:p.Arg373Gln
XM_005252820.3:c.1169G>A	XP_005252877.2:p.Arg390Gln
XM_005252821.3:c.1166G>A	XP_005252878.2:p.Arg389Gln
XM_005252822.4:c.1133G>A	XP_005252879.1:p.Arg378Gln
XM_011519949.2:c.1118G>A	XP_011518251.1:p.Arg373Gln
NM_001142649.2:c.1208G>A	NP_001136121.1:p.Arg403Gln
NM_213599.3:c.1211G>A MANE Select	NP_998764.1:p.Arg404Gln