Canonical Allele Identifier: CA379921084

Gene: ANO5

Linked Data

• ClinVar Variation Id: 437436
• ClinVar RCV Id: RCV000503034
• dbSNP Id: rs1554929292
• MyVariant Identifiers: chr11:g.22272351T>C (hg19) ; chr11:g.22250805T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250805T>C , CM000673.2:g.22250805T>C	GRCh38
NC_000011.9:g.22272351T>C , CM000673.1:g.22272351T>C	GRCh37
NC_000011.8:g.22228927T>C	NCBI36
NG_015844.1:g.62630T>C , LRG_868:g.62630T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.398T>C
ENST00000682266.1:c.628T>C	ENSP00000507766.1:p.Cys210Arg
ENST00000682341.1:c.1036T>C	ENSP00000508251.1:p.Cys346Arg
ENST00000682530.1:c.*1010T>C	ENSP00000506805.1:n.*1010T>C
ENST00000683197.1:c.1036T>C	ENSP00000507641.1:p.Cys346Arg
ENST00000683411.1:c.628T>C	ENSP00000508397.1:p.Cys210Arg
ENST00000683437.1:c.628T>C	ENSP00000508408.1:p.Cys210Arg
ENST00000683613.1:n.2072T>C
ENST00000683834.1:n.1278T>C
ENST00000684663.1:c.1033T>C	ENSP00000508009.1:p.Cys345Arg
ENST00000324559.9:c.1078T>C MANE Select	ENSP00000315371.9:p.Cys360Arg
ENST00000648804.1:n.1413T>C
ENST00000324559.8:c.1078T>C	ENSP00000315371.8:p.Cys360Arg
NM_001142649.1:c.1075T>C	NP_001136121.1:p.Cys359Arg
NM_213599.2:c.1078T>C , LRG_868t1:c.1078T>C	NP_998764.1:p.Cys360Arg
XM_005252820.2:c.1036T>C	XP_005252877.2:p.Cys346Arg
XM_005252821.2:c.1033T>C	XP_005252878.2:p.Cys345Arg
XM_005252822.3:c.1000T>C	XP_005252879.1:p.Cys334Arg
XM_005252823.3:c.997T>C	XP_005252880.1:p.Cys333Arg
XM_011519949.1:c.985T>C	XP_011518251.1:p.Cys329Arg
XM_005252820.3:c.1036T>C	XP_005252877.2:p.Cys346Arg
XM_005252821.3:c.1033T>C	XP_005252878.2:p.Cys345Arg
XM_005252822.4:c.1000T>C	XP_005252879.1:p.Cys334Arg
XM_011519949.2:c.985T>C	XP_011518251.1:p.Cys329Arg
NM_001142649.2:c.1075T>C	NP_001136121.1:p.Cys359Arg
NM_213599.3:c.1078T>C MANE Select	NP_998764.1:p.Cys360Arg