Canonical Allele Identifier: CA379924033

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22294519T>G (hg19) ; chr11:g.22272973T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272973T>G , CM000673.2:g.22272973T>G	GRCh38
NC_000011.9:g.22294519T>G , CM000673.1:g.22294519T>G	GRCh37
NC_000011.8:g.22251095T>G	NCBI36
NG_015844.1:g.84798T>G , LRG_868:g.84798T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.236T>G
ENST00000682266.1:c.1769T>G	ENSP00000507766.1:p.Leu590Arg
ENST00000682341.1:c.2177T>G	ENSP00000508251.1:p.Leu726Arg
ENST00000683197.1:c.2177T>G	ENSP00000507641.1:p.Leu726Arg
ENST00000683411.1:c.1769T>G	ENSP00000508397.1:p.Leu590Arg
ENST00000683437.1:c.1769T>G	ENSP00000508408.1:p.Leu590Arg
ENST00000683613.1:n.3213T>G
ENST00000684663.1:c.2174T>G	ENSP00000508009.1:p.Leu725Arg
ENST00000324559.9:c.2219T>G MANE Select	ENSP00000315371.9:p.Leu740Arg
ENST00000648804.1:n.2554T>G
ENST00000324559.8:c.2219T>G	ENSP00000315371.8:p.Leu740Arg
ENST00000532043.1:n.236T>G
NM_001142649.1:c.2216T>G	NP_001136121.1:p.Leu739Arg
NM_213599.2:c.2219T>G , LRG_868t1:c.2219T>G	NP_998764.1:p.Leu740Arg
XM_005252820.2:c.2177T>G	XP_005252877.2:p.Leu726Arg
XM_005252821.2:c.2174T>G	XP_005252878.2:p.Leu725Arg
XM_005252822.3:c.2141T>G	XP_005252879.1:p.Leu714Arg
XM_005252823.3:c.2138T>G	XP_005252880.1:p.Leu713Arg
XM_011519949.1:c.2126T>G	XP_011518251.1:p.Leu709Arg
XM_005252820.3:c.2177T>G	XP_005252877.2:p.Leu726Arg
XM_005252821.3:c.2174T>G	XP_005252878.2:p.Leu725Arg
XM_005252822.4:c.2141T>G	XP_005252879.1:p.Leu714Arg
XM_011519949.2:c.2126T>G	XP_011518251.1:p.Leu709Arg
NM_001142649.2:c.2216T>G	NP_001136121.1:p.Leu739Arg
NM_213599.3:c.2219T>G MANE Select	NP_998764.1:p.Leu740Arg