Canonical Allele Identifier: CA379920150

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22257727A>T (hg19) ; chr11:g.22236181A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22236181A>T , CM000673.2:g.22236181A>T	GRCh38
NC_000011.9:g.22257727A>T , CM000673.1:g.22257727A>T	GRCh37
NC_000011.8:g.22214303A>T	NCBI36
NG_015844.1:g.48006A>T , LRG_868:g.48006A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.217A>T	ENSP00000507766.1:p.Arg73Ter
ENST00000682341.1:c.625A>T	ENSP00000508251.1:p.Arg209Ter
ENST00000682530.1:c.*599A>T	ENSP00000506805.1:n.*599A>T
ENST00000682684.1:n.1046A>T
ENST00000683197.1:c.625A>T	ENSP00000507641.1:p.Arg209Ter
ENST00000683411.1:c.217A>T	ENSP00000508397.1:p.Arg73Ter
ENST00000683437.1:c.217A>T	ENSP00000508408.1:p.Arg73Ter
ENST00000683613.1:n.1661A>T
ENST00000683834.1:n.867A>T
ENST00000684663.1:c.622A>T	ENSP00000508009.1:p.Arg208Ter
ENST00000324559.9:c.667A>T MANE Select	ENSP00000315371.9:p.Arg223Ter
ENST00000648804.1:n.1213+8595A>T
ENST00000324559.8:c.667A>T	ENSP00000315371.8:p.Arg223Ter
NM_001142649.1:c.664A>T	NP_001136121.1:p.Arg222Ter
NM_213599.2:c.667A>T , LRG_868t1:c.667A>T	NP_998764.1:p.Arg223Ter
XM_005252820.2:c.625A>T	XP_005252877.2:p.Arg209Ter
XM_005252821.2:c.622A>T	XP_005252878.2:p.Arg208Ter
XM_005252822.3:c.589A>T	XP_005252879.1:p.Arg197Ter
XM_005252823.3:c.586A>T	XP_005252880.1:p.Arg196Ter
XM_011519949.1:c.574A>T	XP_011518251.1:p.Arg192Ter
XM_005252820.3:c.625A>T	XP_005252877.2:p.Arg209Ter
XM_005252821.3:c.622A>T	XP_005252878.2:p.Arg208Ter
XM_005252822.4:c.589A>T	XP_005252879.1:p.Arg197Ter
XM_011519949.2:c.574A>T	XP_011518251.1:p.Arg192Ter
NM_001142649.2:c.664A>T	NP_001136121.1:p.Arg222Ter
NM_213599.3:c.667A>T MANE Select	NP_998764.1:p.Arg223Ter