Canonical Allele Identifier: CA218768612

Gene: ANO5

Linked Data

• dbSNP Id: rs771155107
• gnomAD v4: 11-22262948-T-A
• MyVariant Identifiers: chr11:g.22284494T>A (hg19) ; chr11:g.22262948T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22262948T>A , CM000673.2:g.22262948T>A	GRCh38
NC_000011.9:g.22284494T>A , CM000673.1:g.22284494T>A	GRCh37
NC_000011.8:g.22241070T>A	NCBI36
NG_015844.1:g.74773T>A , LRG_868:g.74773T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1353T>A	ENSP00000507766.1:p.Cys451Ter
ENST00000682341.1:c.1761T>A	ENSP00000508251.1:p.Cys587Ter
ENST00000683197.1:c.1761T>A	ENSP00000507641.1:p.Cys587Ter
ENST00000683411.1:c.1353T>A	ENSP00000508397.1:p.Cys451Ter
ENST00000683437.1:c.1353T>A	ENSP00000508408.1:p.Cys451Ter
ENST00000683613.1:n.2797T>A
ENST00000684663.1:c.1758T>A	ENSP00000508009.1:p.Cys586Ter
ENST00000324559.9:c.1803T>A MANE Select	ENSP00000315371.9:p.Cys601Ter
ENST00000648804.1:n.2138T>A
ENST00000324559.8:c.1803T>A	ENSP00000315371.8:p.Cys601Ter
NM_001142649.1:c.1800T>A	NP_001136121.1:p.Cys600Ter
NM_213599.2:c.1803T>A , LRG_868t1:c.1803T>A	NP_998764.1:p.Cys601Ter
XM_005252820.2:c.1761T>A	XP_005252877.2:p.Cys587Ter
XM_005252821.2:c.1758T>A	XP_005252878.2:p.Cys586Ter
XM_005252822.3:c.1725T>A	XP_005252879.1:p.Cys575Ter
XM_005252823.3:c.1722T>A	XP_005252880.1:p.Cys574Ter
XM_011519949.1:c.1710T>A	XP_011518251.1:p.Cys570Ter
XM_005252820.3:c.1761T>A	XP_005252877.2:p.Cys587Ter
XM_005252821.3:c.1758T>A	XP_005252878.2:p.Cys586Ter
XM_005252822.4:c.1725T>A	XP_005252879.1:p.Cys575Ter
XM_011519949.2:c.1710T>A	XP_011518251.1:p.Cys570Ter
NM_001142649.2:c.1800T>A	NP_001136121.1:p.Cys600Ter
NM_213599.3:c.1803T>A MANE Select	NP_998764.1:p.Cys601Ter