Canonical Allele Identifier: CA379923739

Gene: ANO5

Linked Data

• dbSNP Id: rs1222161568
• gnomAD v2: 11-22294389-G-A
• gnomAD v3: 11-22272843-G-A
• gnomAD v4: 11-22272843-G-A
• MyVariant Identifiers: chr11:g.22294389G>A (hg19) ; chr11:g.22272843G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272843G>A , CM000673.2:g.22272843G>A	GRCh38
NC_000011.9:g.22294389G>A , CM000673.1:g.22294389G>A	GRCh37
NC_000011.8:g.22250965G>A	NCBI36
NG_015844.1:g.84668G>A , LRG_868:g.84668G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.106G>A
ENST00000682266.1:c.1639G>A	ENSP00000507766.1:p.Ala547Thr
ENST00000682341.1:c.2047G>A	ENSP00000508251.1:p.Ala683Thr
ENST00000683197.1:c.2047G>A	ENSP00000507641.1:p.Ala683Thr
ENST00000683411.1:c.1639G>A	ENSP00000508397.1:p.Ala547Thr
ENST00000683437.1:c.1639G>A	ENSP00000508408.1:p.Ala547Thr
ENST00000683613.1:n.3083G>A
ENST00000684663.1:c.2044G>A	ENSP00000508009.1:p.Ala682Thr
ENST00000324559.9:c.2089G>A MANE Select	ENSP00000315371.9:p.Ala697Thr
ENST00000648804.1:n.2424G>A
ENST00000324559.8:c.2089G>A	ENSP00000315371.8:p.Ala697Thr
ENST00000532043.1:n.106G>A
NM_001142649.1:c.2086G>A	NP_001136121.1:p.Ala696Thr
NM_213599.2:c.2089G>A , LRG_868t1:c.2089G>A	NP_998764.1:p.Ala697Thr
XM_005252820.2:c.2047G>A	XP_005252877.2:p.Ala683Thr
XM_005252821.2:c.2044G>A	XP_005252878.2:p.Ala682Thr
XM_005252822.3:c.2011G>A	XP_005252879.1:p.Ala671Thr
XM_005252823.3:c.2008G>A	XP_005252880.1:p.Ala670Thr
XM_011519949.1:c.1996G>A	XP_011518251.1:p.Ala666Thr
XM_005252820.3:c.2047G>A	XP_005252877.2:p.Ala683Thr
XM_005252821.3:c.2044G>A	XP_005252878.2:p.Ala682Thr
XM_005252822.4:c.2011G>A	XP_005252879.1:p.Ala671Thr
XM_011519949.2:c.1996G>A	XP_011518251.1:p.Ala666Thr
NM_001142649.2:c.2086G>A	NP_001136121.1:p.Ala696Thr
NM_213599.3:c.2089G>A MANE Select	NP_998764.1:p.Ala697Thr