Canonical Allele Identifier: CA379923643

Gene: ANO5

Linked Data

• ClinVar Variation Id: 468830
• ClinVar RCV Id: RCV000525172
• dbSNP Id: rs1417289245
• gnomAD v2: 11-22232830-G-T
• gnomAD v4: 11-22211284-G-T
• MyVariant Identifiers: chr11:g.22232830G>T (hg19) ; chr11:g.22211284G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22211284G>T , CM000673.2:g.22211284G>T	GRCh38
NC_000011.9:g.22232830G>T , CM000673.1:g.22232830G>T	GRCh37
NC_000011.8:g.22189406G>T	NCBI36
NG_015844.1:g.23109G>T , LRG_868:g.23109G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682084.1:n.3282G>T
ENST00000682266.1:c.-301G>T	ENSP00000507766.1:n.-301G>T
ENST00000682341.1:c.108G>T	ENSP00000508251.1:p.Glu36Asp
ENST00000682530.1:c.105G>T	ENSP00000506805.1:p.Glu35Asp
ENST00000682684.1:n.529G>T
ENST00000683197.1:c.108G>T	ENSP00000507641.1:p.Glu36Asp
ENST00000683411.1:c.-362G>T	ENSP00000508397.1:n.-362G>T
ENST00000683437.1:c.-270-9813G>T	ENSP00000508408.1:n.-270-9813G>T
ENST00000683834.1:n.350G>T
ENST00000683897.1:n.394G>T
ENST00000684365.1:n.519G>T
ENST00000684663.1:c.105G>T	ENSP00000508009.1:p.Glu35Asp
ENST00000324559.9:c.108G>T MANE Select	ENSP00000315371.9:p.Glu36Asp
ENST00000648804.1:n.639G>T
ENST00000324559.8:c.108G>T	ENSP00000315371.8:p.Glu36Asp
NM_001142649.1:c.105G>T	NP_001136121.1:p.Glu35Asp
NM_213599.2:c.108G>T , LRG_868t1:c.108G>T	NP_998764.1:p.Glu36Asp
XM_005252820.2:c.108G>T	XP_005252877.2:p.Glu36Asp
XM_005252821.2:c.105G>T	XP_005252878.2:p.Glu35Asp
XM_005252822.3:c.30G>T	XP_005252879.1:p.Glu10Asp
XM_005252823.3:c.27G>T	XP_005252880.1:p.Glu9Asp
XM_011519949.1:c.87+7434G>T	XP_011518251.1:n.87+7434G>T
XM_005252820.3:c.108G>T	XP_005252877.2:p.Glu36Asp
XM_005252821.3:c.105G>T	XP_005252878.2:p.Glu35Asp
XM_005252822.4:c.30G>T	XP_005252879.1:p.Glu10Asp
XM_011519949.2:c.87+7434G>T	XP_011518251.1:n.87+7434G>T
NM_001142649.2:c.105G>T	NP_001136121.1:p.Glu35Asp
NM_213599.3:c.108G>T MANE Select	NP_998764.1:p.Glu36Asp