Canonical Allele Identifier: CA379921612

Gene: ANO5

Linked Data

• gnomAD v4: 11-22255487-A-G
• MyVariant Identifiers: chr11:g.22277033A>G (hg19) ; chr11:g.22255487A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255487A>G , CM000673.2:g.22255487A>G	GRCh38
NC_000011.9:g.22277033A>G , CM000673.1:g.22277033A>G	GRCh37
NC_000011.8:g.22233609A>G	NCBI36
NG_015844.1:g.67312A>G , LRG_868:g.67312A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.617A>G
ENST00000682266.1:c.847A>G	ENSP00000507766.1:p.Met283Val
ENST00000682341.1:c.1255A>G	ENSP00000508251.1:p.Met419Val
ENST00000682530.1:c.*1229A>G	ENSP00000506805.1:n.*1229A>G
ENST00000683197.1:c.1255A>G	ENSP00000507641.1:p.Met419Val
ENST00000683411.1:c.847A>G	ENSP00000508397.1:p.Met283Val
ENST00000683437.1:c.847A>G	ENSP00000508408.1:p.Met283Val
ENST00000683613.1:n.2291A>G
ENST00000683834.1:n.1497A>G
ENST00000684663.1:c.1252A>G	ENSP00000508009.1:p.Met418Val
ENST00000324559.9:c.1297A>G MANE Select	ENSP00000315371.9:p.Met433Val
ENST00000648804.1:n.1632A>G
ENST00000324559.8:c.1297A>G	ENSP00000315371.8:p.Met433Val
NM_001142649.1:c.1294A>G	NP_001136121.1:p.Met432Val
NM_213599.2:c.1297A>G , LRG_868t1:c.1297A>G	NP_998764.1:p.Met433Val
XM_005252820.2:c.1255A>G	XP_005252877.2:p.Met419Val
XM_005252821.2:c.1252A>G	XP_005252878.2:p.Met418Val
XM_005252822.3:c.1219A>G	XP_005252879.1:p.Met407Val
XM_005252823.3:c.1216A>G	XP_005252880.1:p.Met406Val
XM_011519949.1:c.1204A>G	XP_011518251.1:p.Met402Val
XM_005252820.3:c.1255A>G	XP_005252877.2:p.Met419Val
XM_005252821.3:c.1252A>G	XP_005252878.2:p.Met418Val
XM_005252822.4:c.1219A>G	XP_005252879.1:p.Met407Val
XM_011519949.2:c.1204A>G	XP_011518251.1:p.Met402Val
NM_001142649.2:c.1294A>G	NP_001136121.1:p.Met432Val
NM_213599.3:c.1297A>G MANE Select	NP_998764.1:p.Met433Val