Canonical Allele Identifier: CA379921652

Gene: ANO5

Linked Data

• dbSNP Id: rs1174897078
• gnomAD v2: 11-22277049-A-G
• gnomAD v4: 11-22255503-A-G
• MyVariant Identifiers: chr11:g.22277049A>G (hg19) ; chr11:g.22255503A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255503A>G , CM000673.2:g.22255503A>G	GRCh38
NC_000011.9:g.22277049A>G , CM000673.1:g.22277049A>G	GRCh37
NC_000011.8:g.22233625A>G	NCBI36
NG_015844.1:g.67328A>G , LRG_868:g.67328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.633A>G
ENST00000682266.1:c.863A>G	ENSP00000507766.1:p.Lys288Arg
ENST00000682341.1:c.1271A>G	ENSP00000508251.1:p.Lys424Arg
ENST00000682530.1:c.*1245A>G	ENSP00000506805.1:n.*1245A>G
ENST00000683197.1:c.1271A>G	ENSP00000507641.1:p.Lys424Arg
ENST00000683411.1:c.863A>G	ENSP00000508397.1:p.Lys288Arg
ENST00000683437.1:c.863A>G	ENSP00000508408.1:p.Lys288Arg
ENST00000683613.1:n.2307A>G
ENST00000683834.1:n.1513A>G
ENST00000684663.1:c.1268A>G	ENSP00000508009.1:p.Lys423Arg
ENST00000324559.9:c.1313A>G MANE Select	ENSP00000315371.9:p.Lys438Arg
ENST00000648804.1:n.1648A>G
ENST00000324559.8:c.1313A>G	ENSP00000315371.8:p.Lys438Arg
NM_001142649.1:c.1310A>G	NP_001136121.1:p.Lys437Arg
NM_213599.2:c.1313A>G , LRG_868t1:c.1313A>G	NP_998764.1:p.Lys438Arg
XM_005252820.2:c.1271A>G	XP_005252877.2:p.Lys424Arg
XM_005252821.2:c.1268A>G	XP_005252878.2:p.Lys423Arg
XM_005252822.3:c.1235A>G	XP_005252879.1:p.Lys412Arg
XM_005252823.3:c.1232A>G	XP_005252880.1:p.Lys411Arg
XM_011519949.1:c.1220A>G	XP_011518251.1:p.Lys407Arg
XM_005252820.3:c.1271A>G	XP_005252877.2:p.Lys424Arg
XM_005252821.3:c.1268A>G	XP_005252878.2:p.Lys423Arg
XM_005252822.4:c.1235A>G	XP_005252879.1:p.Lys412Arg
XM_011519949.2:c.1220A>G	XP_011518251.1:p.Lys407Arg
NM_001142649.2:c.1310A>G	NP_001136121.1:p.Lys437Arg
NM_213599.3:c.1313A>G MANE Select	NP_998764.1:p.Lys438Arg