Canonical Allele Identifier: CA379920769

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22271842T>G (hg19) ; chr11:g.22250296T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250296T>G , CM000673.2:g.22250296T>G	GRCh38
NC_000011.9:g.22271842T>G , CM000673.1:g.22271842T>G	GRCh37
NC_000011.8:g.22228418T>G	NCBI36
NG_015844.1:g.62121T>G , LRG_868:g.62121T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.258T>G
ENST00000682266.1:c.488T>G	ENSP00000507766.1:p.Met163Arg
ENST00000682341.1:c.896T>G	ENSP00000508251.1:p.Met299Arg
ENST00000682530.1:c.*870T>G	ENSP00000506805.1:n.*870T>G
ENST00000683197.1:c.896T>G	ENSP00000507641.1:p.Met299Arg
ENST00000683411.1:c.488T>G	ENSP00000508397.1:p.Met163Arg
ENST00000683437.1:c.488T>G	ENSP00000508408.1:p.Met163Arg
ENST00000683613.1:n.1932T>G
ENST00000683834.1:n.1138T>G
ENST00000684663.1:c.893T>G	ENSP00000508009.1:p.Met298Arg
ENST00000324559.9:c.938T>G MANE Select	ENSP00000315371.9:p.Met313Arg
ENST00000648804.1:n.1273T>G
ENST00000324559.8:c.938T>G	ENSP00000315371.8:p.Met313Arg
NM_001142649.1:c.935T>G	NP_001136121.1:p.Met312Arg
NM_213599.2:c.938T>G , LRG_868t1:c.938T>G	NP_998764.1:p.Met313Arg
XM_005252820.2:c.896T>G	XP_005252877.2:p.Met299Arg
XM_005252821.2:c.893T>G	XP_005252878.2:p.Met298Arg
XM_005252822.3:c.860T>G	XP_005252879.1:p.Met287Arg
XM_005252823.3:c.857T>G	XP_005252880.1:p.Met286Arg
XM_011519949.1:c.845T>G	XP_011518251.1:p.Met282Arg
XM_005252820.3:c.896T>G	XP_005252877.2:p.Met299Arg
XM_005252821.3:c.893T>G	XP_005252878.2:p.Met298Arg
XM_005252822.4:c.860T>G	XP_005252879.1:p.Met287Arg
XM_011519949.2:c.845T>G	XP_011518251.1:p.Met282Arg
NM_001142649.2:c.935T>G	NP_001136121.1:p.Met312Arg
NM_213599.3:c.938T>G MANE Select	NP_998764.1:p.Met313Arg