Canonical Allele Identifier: CA379921112

Gene: ANO5

Linked Data

• ClinVar Variation Id: 504242
• ClinVar RCV Id: RCV000598911 ; RCV000800226
• dbSNP Id: rs1554929301
• gnomAD v4: 11-22250815-G-A
• MyVariant Identifiers: chr11:g.22272361G>A (hg19) ; chr11:g.22250815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250815G>A , CM000673.2:g.22250815G>A	GRCh38
NC_000011.9:g.22272361G>A , CM000673.1:g.22272361G>A	GRCh37
NC_000011.8:g.22228937G>A	NCBI36
NG_015844.1:g.62640G>A , LRG_868:g.62640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.408G>A
ENST00000682266.1:c.638G>A	ENSP00000507766.1:p.Trp213Ter
ENST00000682341.1:c.1046G>A	ENSP00000508251.1:p.Trp349Ter
ENST00000682530.1:c.*1020G>A	ENSP00000506805.1:n.*1020G>A
ENST00000683197.1:c.1046G>A	ENSP00000507641.1:p.Trp349Ter
ENST00000683411.1:c.638G>A	ENSP00000508397.1:p.Trp213Ter
ENST00000683437.1:c.638G>A	ENSP00000508408.1:p.Trp213Ter
ENST00000683613.1:n.2082G>A
ENST00000683834.1:n.1288G>A
ENST00000684663.1:c.1043G>A	ENSP00000508009.1:p.Trp348Ter
ENST00000324559.9:c.1088G>A MANE Select	ENSP00000315371.9:p.Trp363Ter
ENST00000648804.1:n.1423G>A
ENST00000324559.8:c.1088G>A	ENSP00000315371.8:p.Trp363Ter
NM_001142649.1:c.1085G>A	NP_001136121.1:p.Trp362Ter
NM_213599.2:c.1088G>A , LRG_868t1:c.1088G>A	NP_998764.1:p.Trp363Ter
XM_005252820.2:c.1046G>A	XP_005252877.2:p.Trp349Ter
XM_005252821.2:c.1043G>A	XP_005252878.2:p.Trp348Ter
XM_005252822.3:c.1010G>A	XP_005252879.1:p.Trp337Ter
XM_005252823.3:c.1007G>A	XP_005252880.1:p.Trp336Ter
XM_011519949.1:c.995G>A	XP_011518251.1:p.Trp332Ter
XM_005252820.3:c.1046G>A	XP_005252877.2:p.Trp349Ter
XM_005252821.3:c.1043G>A	XP_005252878.2:p.Trp348Ter
XM_005252822.4:c.1010G>A	XP_005252879.1:p.Trp337Ter
XM_011519949.2:c.995G>A	XP_011518251.1:p.Trp332Ter
NM_001142649.2:c.1085G>A	NP_001136121.1:p.Trp362Ter
NM_213599.3:c.1088G>A MANE Select	NP_998764.1:p.Trp363Ter