Canonical Allele Identifier: CA379922257

Gene: ANO5

Linked Data

• dbSNP Id: rs397514736
• gnomAD v2: 11-22281198-C-G
• gnomAD v4: 11-22259652-C-G
• MyVariant Identifiers: chr11:g.22281198C>G (hg19) ; chr11:g.22259652C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259652C>G , CM000673.2:g.22259652C>G	GRCh38
NC_000011.9:g.22281198C>G , CM000673.1:g.22281198C>G	GRCh37
NC_000011.8:g.22237774C>G	NCBI36
NG_015844.1:g.71477C>G , LRG_868:g.71477C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1091C>G	ENSP00000507766.1:p.Thr364Arg
ENST00000682341.1:c.1499C>G	ENSP00000508251.1:p.Thr500Arg
ENST00000683197.1:c.1499C>G	ENSP00000507641.1:p.Thr500Arg
ENST00000683411.1:c.1091C>G	ENSP00000508397.1:p.Thr364Arg
ENST00000683437.1:c.1091C>G	ENSP00000508408.1:p.Thr364Arg
ENST00000683613.1:n.2535C>G
ENST00000684663.1:c.1496C>G	ENSP00000508009.1:p.Thr499Arg
ENST00000324559.9:c.1541C>G MANE Select	ENSP00000315371.9:p.Thr514Arg
ENST00000648804.1:n.1876C>G
ENST00000324559.8:c.1541C>G	ENSP00000315371.8:p.Thr514Arg
NM_001142649.1:c.1538C>G	NP_001136121.1:p.Thr513Arg
NM_213599.2:c.1541C>G , LRG_868t1:c.1541C>G	NP_998764.1:p.Thr514Arg
XM_005252820.2:c.1499C>G	XP_005252877.2:p.Thr500Arg
XM_005252821.2:c.1496C>G	XP_005252878.2:p.Thr499Arg
XM_005252822.3:c.1463C>G	XP_005252879.1:p.Thr488Arg
XM_005252823.3:c.1460C>G	XP_005252880.1:p.Thr487Arg
XM_011519949.1:c.1448C>G	XP_011518251.1:p.Thr483Arg
XM_005252820.3:c.1499C>G	XP_005252877.2:p.Thr500Arg
XM_005252821.3:c.1496C>G	XP_005252878.2:p.Thr499Arg
XM_005252822.4:c.1463C>G	XP_005252879.1:p.Thr488Arg
XM_011519949.2:c.1448C>G	XP_011518251.1:p.Thr483Arg
NM_001142649.2:c.1538C>G	NP_001136121.1:p.Thr513Arg
NM_213599.3:c.1541C>G MANE Select	NP_998764.1:p.Thr514Arg