Canonical Allele Identifier: CA379920877

Gene: ANO5

Linked Data

• ClinVar Variation Id: 2420781
• ClinVar RCV Id: RCV003121946
• dbSNP Id: rs1410560691
• gnomAD v2: 11-22271895-T-A
• gnomAD v4: 11-22250349-T-A
• MyVariant Identifiers: chr11:g.22271895T>A (hg19) ; chr11:g.22250349T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250349T>A , CM000673.2:g.22250349T>A	GRCh38
NC_000011.9:g.22271895T>A , CM000673.1:g.22271895T>A	GRCh37
NC_000011.8:g.22228471T>A	NCBI36
NG_015844.1:g.62174T>A , LRG_868:g.62174T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.311T>A
ENST00000682266.1:c.541T>A	ENSP00000507766.1:p.Ser181Thr
ENST00000682341.1:c.949T>A	ENSP00000508251.1:p.Ser317Thr
ENST00000682530.1:c.*923T>A	ENSP00000506805.1:n.*923T>A
ENST00000683197.1:c.949T>A	ENSP00000507641.1:p.Ser317Thr
ENST00000683411.1:c.541T>A	ENSP00000508397.1:p.Ser181Thr
ENST00000683437.1:c.541T>A	ENSP00000508408.1:p.Ser181Thr
ENST00000683613.1:n.1985T>A
ENST00000683834.1:n.1191T>A
ENST00000684663.1:c.946T>A	ENSP00000508009.1:p.Ser316Thr
ENST00000324559.9:c.991T>A MANE Select	ENSP00000315371.9:p.Ser331Thr
ENST00000648804.1:n.1326T>A
ENST00000324559.8:c.991T>A	ENSP00000315371.8:p.Ser331Thr
NM_001142649.1:c.988T>A	NP_001136121.1:p.Ser330Thr
NM_213599.2:c.991T>A , LRG_868t1:c.991T>A	NP_998764.1:p.Ser331Thr
XM_005252820.2:c.949T>A	XP_005252877.2:p.Ser317Thr
XM_005252821.2:c.946T>A	XP_005252878.2:p.Ser316Thr
XM_005252822.3:c.913T>A	XP_005252879.1:p.Ser305Thr
XM_005252823.3:c.910T>A	XP_005252880.1:p.Ser304Thr
XM_011519949.1:c.898T>A	XP_011518251.1:p.Ser300Thr
XM_005252820.3:c.949T>A	XP_005252877.2:p.Ser317Thr
XM_005252821.3:c.946T>A	XP_005252878.2:p.Ser316Thr
XM_005252822.4:c.913T>A	XP_005252879.1:p.Ser305Thr
XM_011519949.2:c.898T>A	XP_011518251.1:p.Ser300Thr
NM_001142649.2:c.988T>A	NP_001136121.1:p.Ser330Thr
NM_213599.3:c.991T>A MANE Select	NP_998764.1:p.Ser331Thr