Canonical Allele Identifier: CA240799

Gene: ANO5

Linked Data

• ClinVar Variation Id: 194687
• ClinVar RCV Id: RCV000175112 ; RCV001852139 ; RCV004539623
• dbSNP Id: rs794727179
• gnomAD v2: 11-22283849-G-A
• gnomAD v3: 11-22262303-G-A
• gnomAD v4: 11-22262303-G-A
• MyVariant Identifiers: chr11:g.22283849G>A (hg19) ; chr11:g.22262303G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22262303G>A , CM000673.2:g.22262303G>A	GRCh38
NC_000011.9:g.22283849G>A , CM000673.1:g.22283849G>A	GRCh37
NC_000011.8:g.22240425G>A	NCBI36
NG_015844.1:g.74128G>A , LRG_868:g.74128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.1350+5G>A	ENSP00000507766.1:n.1350+5G>A
ENST00000682341.1:c.1758+5G>A	ENSP00000508251.1:n.1758+5G>A
ENST00000683197.1:c.1758+5G>A	ENSP00000507641.1:n.1758+5G>A
ENST00000683411.1:c.1350+5G>A	ENSP00000508397.1:n.1350+5G>A
ENST00000683437.1:c.1350+5G>A	ENSP00000508408.1:n.1350+5G>A
ENST00000683613.1:n.2794+5G>A
ENST00000684663.1:c.1755+5G>A	ENSP00000508009.1:n.1755+5G>A
ENST00000324559.9:c.1800+5G>A MANE Select	ENSP00000315371.9:n.1800+5G>A
ENST00000648804.1:n.2135+5G>A
ENST00000324559.8:c.1800+5G>A	ENSP00000315371.8:n.1800+5G>A
NM_001142649.1:c.1797+5G>A	NP_001136121.1:n.1797+5G>A
NM_213599.2:c.1800+5G>A , LRG_868t1:c.1800+5G>A	NP_998764.1:n.1800+5G>A
XM_005252820.2:c.1758+5G>A	XP_005252877.2:n.1758+5G>A
XM_005252821.2:c.1755+5G>A	XP_005252878.2:n.1755+5G>A
XM_005252822.3:c.1722+5G>A	XP_005252879.1:n.1722+5G>A
XM_005252823.3:c.1719+5G>A	XP_005252880.1:n.1719+5G>A
XM_011519949.1:c.1707+5G>A	XP_011518251.1:n.1707+5G>A
XM_005252820.3:c.1758+5G>A	XP_005252877.2:n.1758+5G>A
XM_005252821.3:c.1755+5G>A	XP_005252878.2:n.1755+5G>A
XM_005252822.4:c.1722+5G>A	XP_005252879.1:n.1722+5G>A
XM_011519949.2:c.1707+5G>A	XP_011518251.1:n.1707+5G>A
NM_001142649.2:c.1797+5G>A	NP_001136121.1:n.1797+5G>A
NM_213599.3:c.1800+5G>A MANE Select	NP_998764.1:n.1800+5G>A