Canonical Allele Identifier: CA379921619

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22277036T>C (hg19) ; chr11:g.22255490T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255490T>C , CM000673.2:g.22255490T>C	GRCh38
NC_000011.9:g.22277036T>C , CM000673.1:g.22277036T>C	GRCh37
NC_000011.8:g.22233612T>C	NCBI36
NG_015844.1:g.67315T>C , LRG_868:g.67315T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.620T>C
ENST00000682266.1:c.850T>C	ENSP00000507766.1:p.Cys284Arg
ENST00000682341.1:c.1258T>C	ENSP00000508251.1:p.Cys420Arg
ENST00000682530.1:c.*1232T>C	ENSP00000506805.1:n.*1232T>C
ENST00000683197.1:c.1258T>C	ENSP00000507641.1:p.Cys420Arg
ENST00000683411.1:c.850T>C	ENSP00000508397.1:p.Cys284Arg
ENST00000683437.1:c.850T>C	ENSP00000508408.1:p.Cys284Arg
ENST00000683613.1:n.2294T>C
ENST00000683834.1:n.1500T>C
ENST00000684663.1:c.1255T>C	ENSP00000508009.1:p.Cys419Arg
ENST00000324559.9:c.1300T>C MANE Select	ENSP00000315371.9:p.Cys434Arg
ENST00000648804.1:n.1635T>C
ENST00000324559.8:c.1300T>C	ENSP00000315371.8:p.Cys434Arg
NM_001142649.1:c.1297T>C	NP_001136121.1:p.Cys433Arg
NM_213599.2:c.1300T>C , LRG_868t1:c.1300T>C	NP_998764.1:p.Cys434Arg
XM_005252820.2:c.1258T>C	XP_005252877.2:p.Cys420Arg
XM_005252821.2:c.1255T>C	XP_005252878.2:p.Cys419Arg
XM_005252822.3:c.1222T>C	XP_005252879.1:p.Cys408Arg
XM_005252823.3:c.1219T>C	XP_005252880.1:p.Cys407Arg
XM_011519949.1:c.1207T>C	XP_011518251.1:p.Cys403Arg
XM_005252820.3:c.1258T>C	XP_005252877.2:p.Cys420Arg
XM_005252821.3:c.1255T>C	XP_005252878.2:p.Cys419Arg
XM_005252822.4:c.1222T>C	XP_005252879.1:p.Cys408Arg
XM_011519949.2:c.1207T>C	XP_011518251.1:p.Cys403Arg
NM_001142649.2:c.1297T>C	NP_001136121.1:p.Cys433Arg
NM_213599.3:c.1300T>C MANE Select	NP_998764.1:p.Cys434Arg