Canonical Allele Identifier: CA5923127

Gene: ANO5

Linked Data

• ClinVar Variation Id: 286019
• ClinVar RCV Id: RCV000355856 ; RCV002521946
• dbSNP Id: rs760792371
• ExAC: 11:22272376 C / T
• gnomAD v2: 11-22272376-C-T
• gnomAD v3: 11-22250830-C-T
• gnomAD v4: 11-22250830-C-T
• COSMIC: COSM3375762
• MyVariant Identifiers: chr11:g.22272376C>T (hg19) ; chr11:g.22250830C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250830C>T , CM000673.2:g.22250830C>T	GRCh38
NC_000011.9:g.22272376C>T , CM000673.1:g.22272376C>T	GRCh37
NC_000011.8:g.22228952C>T	NCBI36
NG_015844.1:g.62655C>T , LRG_868:g.62655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.423C>T
ENST00000682266.1:c.653C>T	ENSP00000507766.1:p.Thr218Met
ENST00000682341.1:c.1061C>T	ENSP00000508251.1:p.Thr354Met
ENST00000682530.1:c.*1035C>T	ENSP00000506805.1:n.*1035C>T
ENST00000683197.1:c.1061C>T	ENSP00000507641.1:p.Thr354Met
ENST00000683411.1:c.653C>T	ENSP00000508397.1:p.Thr218Met
ENST00000683437.1:c.653C>T	ENSP00000508408.1:p.Thr218Met
ENST00000683613.1:n.2097C>T
ENST00000683834.1:n.1303C>T
ENST00000684663.1:c.1058C>T	ENSP00000508009.1:p.Thr353Met
ENST00000324559.9:c.1103C>T MANE Select	ENSP00000315371.9:p.Thr368Met
ENST00000648804.1:n.1438C>T
ENST00000324559.8:c.1103C>T	ENSP00000315371.8:p.Thr368Met
NM_001142649.1:c.1100C>T	NP_001136121.1:p.Thr367Met
NM_213599.2:c.1103C>T , LRG_868t1:c.1103C>T	NP_998764.1:p.Thr368Met
XM_005252820.2:c.1061C>T	XP_005252877.2:p.Thr354Met
XM_005252821.2:c.1058C>T	XP_005252878.2:p.Thr353Met
XM_005252822.3:c.1025C>T	XP_005252879.1:p.Thr342Met
XM_005252823.3:c.1022C>T	XP_005252880.1:p.Thr341Met
XM_011519949.1:c.1010C>T	XP_011518251.1:p.Thr337Met
XM_005252820.3:c.1061C>T	XP_005252877.2:p.Thr354Met
XM_005252821.3:c.1058C>T	XP_005252878.2:p.Thr353Met
XM_005252822.4:c.1025C>T	XP_005252879.1:p.Thr342Met
XM_011519949.2:c.1010C>T	XP_011518251.1:p.Thr337Met
NM_001142649.2:c.1100C>T	NP_001136121.1:p.Thr367Met
NM_213599.3:c.1103C>T MANE Select	NP_998764.1:p.Thr368Met