Canonical Allele Identifier: CA379923700

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22294376G>T (hg19) ; chr11:g.22272830G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272830G>T , CM000673.2:g.22272830G>T	GRCh38
NC_000011.9:g.22294376G>T , CM000673.1:g.22294376G>T	GRCh37
NC_000011.8:g.22250952G>T	NCBI36
NG_015844.1:g.84655G>T , LRG_868:g.84655G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.93G>T
ENST00000682266.1:c.1626G>T	ENSP00000507766.1:p.Leu542Phe
ENST00000682341.1:c.2034G>T	ENSP00000508251.1:p.Leu678Phe
ENST00000683197.1:c.2034G>T	ENSP00000507641.1:p.Leu678Phe
ENST00000683411.1:c.1626G>T	ENSP00000508397.1:p.Leu542Phe
ENST00000683437.1:c.1626G>T	ENSP00000508408.1:p.Leu542Phe
ENST00000683613.1:n.3070G>T
ENST00000684663.1:c.2031G>T	ENSP00000508009.1:p.Leu677Phe
ENST00000324559.9:c.2076G>T MANE Select	ENSP00000315371.9:p.Leu692Phe
ENST00000648804.1:n.2411G>T
ENST00000324559.8:c.2076G>T	ENSP00000315371.8:p.Leu692Phe
ENST00000532043.1:n.93G>T
NM_001142649.1:c.2073G>T	NP_001136121.1:p.Leu691Phe
NM_213599.2:c.2076G>T , LRG_868t1:c.2076G>T	NP_998764.1:p.Leu692Phe
XM_005252820.2:c.2034G>T	XP_005252877.2:p.Leu678Phe
XM_005252821.2:c.2031G>T	XP_005252878.2:p.Leu677Phe
XM_005252822.3:c.1998G>T	XP_005252879.1:p.Leu666Phe
XM_005252823.3:c.1995G>T	XP_005252880.1:p.Leu665Phe
XM_011519949.1:c.1983G>T	XP_011518251.1:p.Leu661Phe
XM_005252820.3:c.2034G>T	XP_005252877.2:p.Leu678Phe
XM_005252821.3:c.2031G>T	XP_005252878.2:p.Leu677Phe
XM_005252822.4:c.1998G>T	XP_005252879.1:p.Leu666Phe
XM_011519949.2:c.1983G>T	XP_011518251.1:p.Leu661Phe
NM_001142649.2:c.2073G>T	NP_001136121.1:p.Leu691Phe
NM_213599.3:c.2076G>T MANE Select	NP_998764.1:p.Leu692Phe