Canonical Allele Identifier: CA379921615

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22277035G>A (hg19) ; chr11:g.22255489G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255489G>A , CM000673.2:g.22255489G>A	GRCh38
NC_000011.9:g.22277035G>A , CM000673.1:g.22277035G>A	GRCh37
NC_000011.8:g.22233611G>A	NCBI36
NG_015844.1:g.67314G>A , LRG_868:g.67314G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.619G>A
ENST00000682266.1:c.849G>A	ENSP00000507766.1:p.Met283Ile
ENST00000682341.1:c.1257G>A	ENSP00000508251.1:p.Met419Ile
ENST00000682530.1:c.*1231G>A	ENSP00000506805.1:n.*1231G>A
ENST00000683197.1:c.1257G>A	ENSP00000507641.1:p.Met419Ile
ENST00000683411.1:c.849G>A	ENSP00000508397.1:p.Met283Ile
ENST00000683437.1:c.849G>A	ENSP00000508408.1:p.Met283Ile
ENST00000683613.1:n.2293G>A
ENST00000683834.1:n.1499G>A
ENST00000684663.1:c.1254G>A	ENSP00000508009.1:p.Met418Ile
ENST00000324559.9:c.1299G>A MANE Select	ENSP00000315371.9:p.Met433Ile
ENST00000648804.1:n.1634G>A
ENST00000324559.8:c.1299G>A	ENSP00000315371.8:p.Met433Ile
NM_001142649.1:c.1296G>A	NP_001136121.1:p.Met432Ile
NM_213599.2:c.1299G>A , LRG_868t1:c.1299G>A	NP_998764.1:p.Met433Ile
XM_005252820.2:c.1257G>A	XP_005252877.2:p.Met419Ile
XM_005252821.2:c.1254G>A	XP_005252878.2:p.Met418Ile
XM_005252822.3:c.1221G>A	XP_005252879.1:p.Met407Ile
XM_005252823.3:c.1218G>A	XP_005252880.1:p.Met406Ile
XM_011519949.1:c.1206G>A	XP_011518251.1:p.Met402Ile
XM_005252820.3:c.1257G>A	XP_005252877.2:p.Met419Ile
XM_005252821.3:c.1254G>A	XP_005252878.2:p.Met418Ile
XM_005252822.4:c.1221G>A	XP_005252879.1:p.Met407Ile
XM_011519949.2:c.1206G>A	XP_011518251.1:p.Met402Ile
NM_001142649.2:c.1296G>A	NP_001136121.1:p.Met432Ile
NM_213599.3:c.1299G>A MANE Select	NP_998764.1:p.Met433Ile