Canonical Allele Identifier: CA10638161

Gene: ANO5

Linked Data

• ClinVar Variation Id: 304096
• ClinVar RCV Id: RCV000333099 ; RCV000270962 ; RCV002056195 ; RCV001108711
• dbSNP Id: rs770721931
• gnomAD v4: 11-22211250-C-T
• MyVariant Identifiers: chr11:g.22232796C>T (hg19) ; chr11:g.22211250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22211250C>T , CM000673.2:g.22211250C>T	GRCh38
NC_000011.9:g.22232796C>T , CM000673.1:g.22232796C>T	GRCh37
NC_000011.8:g.22189372C>T	NCBI36
NG_015844.1:g.23075C>T , LRG_868:g.23075C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682084.1:n.3248C>T
ENST00000682266.1:c.-321-14C>T	ENSP00000507766.1:n.-321-14C>T
ENST00000682341.1:c.88-14C>T	ENSP00000508251.1:n.88-14C>T
ENST00000682530.1:c.88-17C>T	ENSP00000506805.1:n.88-17C>T
ENST00000682684.1:n.512-17C>T
ENST00000683197.1:c.88-14C>T	ENSP00000507641.1:n.88-14C>T
ENST00000683411.1:c.-382-14C>T	ENSP00000508397.1:n.-382-14C>T
ENST00000683437.1:c.-270-9847C>T	ENSP00000508408.1:n.-270-9847C>T
ENST00000683834.1:n.333-17C>T
ENST00000683897.1:n.374-14C>T
ENST00000684365.1:n.502-17C>T
ENST00000684663.1:c.88-17C>T	ENSP00000508009.1:n.88-17C>T
ENST00000324559.9:c.88-14C>T MANE Select	ENSP00000315371.9:n.88-14C>T
ENST00000648804.1:n.605C>T
ENST00000324559.8:c.88-14C>T	ENSP00000315371.8:n.88-14C>T
NM_001142649.1:c.88-17C>T	NP_001136121.1:n.88-17C>T
NM_213599.2:c.88-14C>T , LRG_868t1:c.88-14C>T	NP_998764.1:n.88-14C>T
XM_005252820.2:c.88-14C>T	XP_005252877.2:n.88-14C>T
XM_005252821.2:c.88-17C>T	XP_005252878.2:n.88-17C>T
XM_005252822.3:c.10-14C>T	XP_005252879.1:n.10-14C>T
XM_005252823.3:c.10-17C>T	XP_005252880.1:n.10-17C>T
XM_011519949.1:c.87+7400C>T	XP_011518251.1:n.87+7400C>T
XM_005252820.3:c.88-14C>T	XP_005252877.2:n.88-14C>T
XM_005252821.3:c.88-17C>T	XP_005252878.2:n.88-17C>T
XM_005252822.4:c.10-14C>T	XP_005252879.1:n.10-14C>T
XM_011519949.2:c.87+7400C>T	XP_011518251.1:n.87+7400C>T
NM_001142649.2:c.88-17C>T	NP_001136121.1:n.88-17C>T
NM_213599.3:c.88-14C>T MANE Select	NP_998764.1:n.88-14C>T