Canonical Allele Identifier: CA379922872

Gene: ANO5

Linked Data

• ClinVar Variation Id: 2688577
• ClinVar RCV Id: RCV003490466
• gnomAD v4: 11-22262946-T-G
• MyVariant Identifiers: chr11:g.22284492T>G (hg19) ; chr11:g.22262946T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22262946T>G , CM000673.2:g.22262946T>G	GRCh38
NC_000011.9:g.22284492T>G , CM000673.1:g.22284492T>G	GRCh37
NC_000011.8:g.22241068T>G	NCBI36
NG_015844.1:g.74771T>G , LRG_868:g.74771T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1351T>G	ENSP00000507766.1:p.Cys451Gly
ENST00000682341.1:c.1759T>G	ENSP00000508251.1:p.Cys587Gly
ENST00000683197.1:c.1759T>G	ENSP00000507641.1:p.Cys587Gly
ENST00000683411.1:c.1351T>G	ENSP00000508397.1:p.Cys451Gly
ENST00000683437.1:c.1351T>G	ENSP00000508408.1:p.Cys451Gly
ENST00000683613.1:n.2795T>G
ENST00000684663.1:c.1756T>G	ENSP00000508009.1:p.Cys586Gly
ENST00000324559.9:c.1801T>G MANE Select	ENSP00000315371.9:p.Cys601Gly
ENST00000648804.1:n.2136T>G
ENST00000324559.8:c.1801T>G	ENSP00000315371.8:p.Cys601Gly
NM_001142649.1:c.1798T>G	NP_001136121.1:p.Cys600Gly
NM_213599.2:c.1801T>G , LRG_868t1:c.1801T>G	NP_998764.1:p.Cys601Gly
XM_005252820.2:c.1759T>G	XP_005252877.2:p.Cys587Gly
XM_005252821.2:c.1756T>G	XP_005252878.2:p.Cys586Gly
XM_005252822.3:c.1723T>G	XP_005252879.1:p.Cys575Gly
XM_005252823.3:c.1720T>G	XP_005252880.1:p.Cys574Gly
XM_011519949.1:c.1708T>G	XP_011518251.1:p.Cys570Gly
XM_005252820.3:c.1759T>G	XP_005252877.2:p.Cys587Gly
XM_005252821.3:c.1756T>G	XP_005252878.2:p.Cys586Gly
XM_005252822.4:c.1723T>G	XP_005252879.1:p.Cys575Gly
XM_011519949.2:c.1708T>G	XP_011518251.1:p.Cys570Gly
NM_001142649.2:c.1798T>G	NP_001136121.1:p.Cys600Gly
NM_213599.3:c.1801T>G MANE Select	NP_998764.1:p.Cys601Gly