Canonical Allele Identifier: CA379920136

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22257719T>C (hg19) ; chr11:g.22236173T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22236173T>C , CM000673.2:g.22236173T>C	GRCh38
NC_000011.9:g.22257719T>C , CM000673.1:g.22257719T>C	GRCh37
NC_000011.8:g.22214295T>C	NCBI36
NG_015844.1:g.47998T>C , LRG_868:g.47998T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.209T>C	ENSP00000507766.1:p.Ile70Thr
ENST00000682341.1:c.617T>C	ENSP00000508251.1:p.Ile206Thr
ENST00000682530.1:c.*591T>C	ENSP00000506805.1:n.*591T>C
ENST00000682684.1:n.1038T>C
ENST00000683197.1:c.617T>C	ENSP00000507641.1:p.Ile206Thr
ENST00000683411.1:c.209T>C	ENSP00000508397.1:p.Ile70Thr
ENST00000683437.1:c.209T>C	ENSP00000508408.1:p.Ile70Thr
ENST00000683613.1:n.1653T>C
ENST00000683834.1:n.859T>C
ENST00000684663.1:c.614T>C	ENSP00000508009.1:p.Ile205Thr
ENST00000324559.9:c.659T>C MANE Select	ENSP00000315371.9:p.Ile220Thr
ENST00000648804.1:n.1213+8587T>C
ENST00000324559.8:c.659T>C	ENSP00000315371.8:p.Ile220Thr
NM_001142649.1:c.656T>C	NP_001136121.1:p.Ile219Thr
NM_213599.2:c.659T>C , LRG_868t1:c.659T>C	NP_998764.1:p.Ile220Thr
XM_005252820.2:c.617T>C	XP_005252877.2:p.Ile206Thr
XM_005252821.2:c.614T>C	XP_005252878.2:p.Ile205Thr
XM_005252822.3:c.581T>C	XP_005252879.1:p.Ile194Thr
XM_005252823.3:c.578T>C	XP_005252880.1:p.Ile193Thr
XM_011519949.1:c.566T>C	XP_011518251.1:p.Ile189Thr
XM_005252820.3:c.617T>C	XP_005252877.2:p.Ile206Thr
XM_005252821.3:c.614T>C	XP_005252878.2:p.Ile205Thr
XM_005252822.4:c.581T>C	XP_005252879.1:p.Ile194Thr
XM_011519949.2:c.566T>C	XP_011518251.1:p.Ile189Thr
NM_001142649.2:c.656T>C	NP_001136121.1:p.Ile219Thr
NM_213599.3:c.659T>C MANE Select	NP_998764.1:p.Ile220Thr