Canonical Allele Identifier: CA379922273

Gene: ANO5

Linked Data

• ClinVar Variation Id: 2605199
• ClinVar RCV Id: RCV003359742
• gnomAD v4: 11-22259661-C-A
• MyVariant Identifiers: chr11:g.22281207C>A (hg19) ; chr11:g.22259661C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259661C>A , CM000673.2:g.22259661C>A	GRCh38
NC_000011.9:g.22281207C>A , CM000673.1:g.22281207C>A	GRCh37
NC_000011.8:g.22237783C>A	NCBI36
NG_015844.1:g.71486C>A , LRG_868:g.71486C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1100C>A	ENSP00000507766.1:p.Thr367Lys
ENST00000682341.1:c.1508C>A	ENSP00000508251.1:p.Thr503Lys
ENST00000683197.1:c.1508C>A	ENSP00000507641.1:p.Thr503Lys
ENST00000683411.1:c.1100C>A	ENSP00000508397.1:p.Thr367Lys
ENST00000683437.1:c.1100C>A	ENSP00000508408.1:p.Thr367Lys
ENST00000683613.1:n.2544C>A
ENST00000684663.1:c.1505C>A	ENSP00000508009.1:p.Thr502Lys
ENST00000324559.9:c.1550C>A MANE Select	ENSP00000315371.9:p.Thr517Lys
ENST00000648804.1:n.1885C>A
ENST00000324559.8:c.1550C>A	ENSP00000315371.8:p.Thr517Lys
NM_001142649.1:c.1547C>A	NP_001136121.1:p.Thr516Lys
NM_213599.2:c.1550C>A , LRG_868t1:c.1550C>A	NP_998764.1:p.Thr517Lys
XM_005252820.2:c.1508C>A	XP_005252877.2:p.Thr503Lys
XM_005252821.2:c.1505C>A	XP_005252878.2:p.Thr502Lys
XM_005252822.3:c.1472C>A	XP_005252879.1:p.Thr491Lys
XM_005252823.3:c.1469C>A	XP_005252880.1:p.Thr490Lys
XM_011519949.1:c.1457C>A	XP_011518251.1:p.Thr486Lys
XM_005252820.3:c.1508C>A	XP_005252877.2:p.Thr503Lys
XM_005252821.3:c.1505C>A	XP_005252878.2:p.Thr502Lys
XM_005252822.4:c.1472C>A	XP_005252879.1:p.Thr491Lys
XM_011519949.2:c.1457C>A	XP_011518251.1:p.Thr486Lys
NM_001142649.2:c.1547C>A	NP_001136121.1:p.Thr516Lys
NM_213599.3:c.1550C>A MANE Select	NP_998764.1:p.Thr517Lys