Canonical Allele Identifier: CA379922059

Gene: ANO5

Linked Data

• gnomAD v4: 11-22259562-G-T
• MyVariant Identifiers: chr11:g.22281108G>T (hg19) ; chr11:g.22259562G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259562G>T , CM000673.2:g.22259562G>T	GRCh38
NC_000011.9:g.22281108G>T , CM000673.1:g.22281108G>T	GRCh37
NC_000011.8:g.22237684G>T	NCBI36
NG_015844.1:g.71387G>T , LRG_868:g.71387G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1001G>T	ENSP00000507766.1:p.Arg334Leu
ENST00000682341.1:c.1409G>T	ENSP00000508251.1:p.Arg470Leu
ENST00000683197.1:c.1409G>T	ENSP00000507641.1:p.Arg470Leu
ENST00000683411.1:c.1001G>T	ENSP00000508397.1:p.Arg334Leu
ENST00000683437.1:c.1001G>T	ENSP00000508408.1:p.Arg334Leu
ENST00000683613.1:n.2445G>T
ENST00000684663.1:c.1406G>T	ENSP00000508009.1:p.Arg469Leu
ENST00000324559.9:c.1451G>T MANE Select	ENSP00000315371.9:p.Arg484Leu
ENST00000648804.1:n.1786G>T
ENST00000324559.8:c.1451G>T	ENSP00000315371.8:p.Arg484Leu
NM_001142649.1:c.1448G>T	NP_001136121.1:p.Arg483Leu
NM_213599.2:c.1451G>T , LRG_868t1:c.1451G>T	NP_998764.1:p.Arg484Leu
XM_005252820.2:c.1409G>T	XP_005252877.2:p.Arg470Leu
XM_005252821.2:c.1406G>T	XP_005252878.2:p.Arg469Leu
XM_005252822.3:c.1373G>T	XP_005252879.1:p.Arg458Leu
XM_005252823.3:c.1370G>T	XP_005252880.1:p.Arg457Leu
XM_011519949.1:c.1358G>T	XP_011518251.1:p.Arg453Leu
XM_005252820.3:c.1409G>T	XP_005252877.2:p.Arg470Leu
XM_005252821.3:c.1406G>T	XP_005252878.2:p.Arg469Leu
XM_005252822.4:c.1373G>T	XP_005252879.1:p.Arg458Leu
XM_011519949.2:c.1358G>T	XP_011518251.1:p.Arg453Leu
NM_001142649.2:c.1448G>T	NP_001136121.1:p.Arg483Leu
NM_213599.3:c.1451G>T MANE Select	NP_998764.1:p.Arg484Leu