Canonical Allele Identifier: CA379922270

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22281204T>G (hg19) ; chr11:g.22259658T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259658T>G , CM000673.2:g.22259658T>G	GRCh38
NC_000011.9:g.22281204T>G , CM000673.1:g.22281204T>G	GRCh37
NC_000011.8:g.22237780T>G	NCBI36
NG_015844.1:g.71483T>G , LRG_868:g.71483T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1097T>G	ENSP00000507766.1:p.Leu366Arg
ENST00000682341.1:c.1505T>G	ENSP00000508251.1:p.Leu502Arg
ENST00000683197.1:c.1505T>G	ENSP00000507641.1:p.Leu502Arg
ENST00000683411.1:c.1097T>G	ENSP00000508397.1:p.Leu366Arg
ENST00000683437.1:c.1097T>G	ENSP00000508408.1:p.Leu366Arg
ENST00000683613.1:n.2541T>G
ENST00000684663.1:c.1502T>G	ENSP00000508009.1:p.Leu501Arg
ENST00000324559.9:c.1547T>G MANE Select	ENSP00000315371.9:p.Leu516Arg
ENST00000648804.1:n.1882T>G
ENST00000324559.8:c.1547T>G	ENSP00000315371.8:p.Leu516Arg
NM_001142649.1:c.1544T>G	NP_001136121.1:p.Leu515Arg
NM_213599.2:c.1547T>G , LRG_868t1:c.1547T>G	NP_998764.1:p.Leu516Arg
XM_005252820.2:c.1505T>G	XP_005252877.2:p.Leu502Arg
XM_005252821.2:c.1502T>G	XP_005252878.2:p.Leu501Arg
XM_005252822.3:c.1469T>G	XP_005252879.1:p.Leu490Arg
XM_005252823.3:c.1466T>G	XP_005252880.1:p.Leu489Arg
XM_011519949.1:c.1454T>G	XP_011518251.1:p.Leu485Arg
XM_005252820.3:c.1505T>G	XP_005252877.2:p.Leu502Arg
XM_005252821.3:c.1502T>G	XP_005252878.2:p.Leu501Arg
XM_005252822.4:c.1469T>G	XP_005252879.1:p.Leu490Arg
XM_011519949.2:c.1454T>G	XP_011518251.1:p.Leu485Arg
NM_001142649.2:c.1544T>G	NP_001136121.1:p.Leu515Arg
NM_213599.3:c.1547T>G MANE Select	NP_998764.1:p.Leu516Arg