Canonical Allele Identifier: CA379923721

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22294383C>A (hg19) ; chr11:g.22272837C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272837C>A , CM000673.2:g.22272837C>A	GRCh38
NC_000011.9:g.22294383C>A , CM000673.1:g.22294383C>A	GRCh37
NC_000011.8:g.22250959C>A	NCBI36
NG_015844.1:g.84662C>A , LRG_868:g.84662C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.100C>A
ENST00000682266.1:c.1633C>A	ENSP00000507766.1:p.Leu545Ile
ENST00000682341.1:c.2041C>A	ENSP00000508251.1:p.Leu681Ile
ENST00000683197.1:c.2041C>A	ENSP00000507641.1:p.Leu681Ile
ENST00000683411.1:c.1633C>A	ENSP00000508397.1:p.Leu545Ile
ENST00000683437.1:c.1633C>A	ENSP00000508408.1:p.Leu545Ile
ENST00000683613.1:n.3077C>A
ENST00000684663.1:c.2038C>A	ENSP00000508009.1:p.Leu680Ile
ENST00000324559.9:c.2083C>A MANE Select	ENSP00000315371.9:p.Leu695Ile
ENST00000648804.1:n.2418C>A
ENST00000324559.8:c.2083C>A	ENSP00000315371.8:p.Leu695Ile
ENST00000532043.1:n.100C>A
NM_001142649.1:c.2080C>A	NP_001136121.1:p.Leu694Ile
NM_213599.2:c.2083C>A , LRG_868t1:c.2083C>A	NP_998764.1:p.Leu695Ile
XM_005252820.2:c.2041C>A	XP_005252877.2:p.Leu681Ile
XM_005252821.2:c.2038C>A	XP_005252878.2:p.Leu680Ile
XM_005252822.3:c.2005C>A	XP_005252879.1:p.Leu669Ile
XM_005252823.3:c.2002C>A	XP_005252880.1:p.Leu668Ile
XM_011519949.1:c.1990C>A	XP_011518251.1:p.Leu664Ile
XM_005252820.3:c.2041C>A	XP_005252877.2:p.Leu681Ile
XM_005252821.3:c.2038C>A	XP_005252878.2:p.Leu680Ile
XM_005252822.4:c.2005C>A	XP_005252879.1:p.Leu669Ile
XM_011519949.2:c.1990C>A	XP_011518251.1:p.Leu664Ile
NM_001142649.2:c.2080C>A	NP_001136121.1:p.Leu694Ile
NM_213599.3:c.2083C>A MANE Select	NP_998764.1:p.Leu695Ile