Canonical Allele Identifier: CA379921644

Gene: ANO5

Linked Data

• gnomAD v4: 11-22255500-G-A
• MyVariant Identifiers: chr11:g.22277046G>A (hg19) ; chr11:g.22255500G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255500G>A , CM000673.2:g.22255500G>A	GRCh38
NC_000011.9:g.22277046G>A , CM000673.1:g.22277046G>A	GRCh37
NC_000011.8:g.22233622G>A	NCBI36
NG_015844.1:g.67325G>A , LRG_868:g.67325G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.630G>A
ENST00000682266.1:c.860G>A	ENSP00000507766.1:p.Arg287Lys
ENST00000682341.1:c.1268G>A	ENSP00000508251.1:p.Arg423Lys
ENST00000682530.1:c.*1242G>A	ENSP00000506805.1:n.*1242G>A
ENST00000683197.1:c.1268G>A	ENSP00000507641.1:p.Arg423Lys
ENST00000683411.1:c.860G>A	ENSP00000508397.1:p.Arg287Lys
ENST00000683437.1:c.860G>A	ENSP00000508408.1:p.Arg287Lys
ENST00000683613.1:n.2304G>A
ENST00000683834.1:n.1510G>A
ENST00000684663.1:c.1265G>A	ENSP00000508009.1:p.Arg422Lys
ENST00000324559.9:c.1310G>A MANE Select	ENSP00000315371.9:p.Arg437Lys
ENST00000648804.1:n.1645G>A
ENST00000324559.8:c.1310G>A	ENSP00000315371.8:p.Arg437Lys
NM_001142649.1:c.1307G>A	NP_001136121.1:p.Arg436Lys
NM_213599.2:c.1310G>A , LRG_868t1:c.1310G>A	NP_998764.1:p.Arg437Lys
XM_005252820.2:c.1268G>A	XP_005252877.2:p.Arg423Lys
XM_005252821.2:c.1265G>A	XP_005252878.2:p.Arg422Lys
XM_005252822.3:c.1232G>A	XP_005252879.1:p.Arg411Lys
XM_005252823.3:c.1229G>A	XP_005252880.1:p.Arg410Lys
XM_011519949.1:c.1217G>A	XP_011518251.1:p.Arg406Lys
XM_005252820.3:c.1268G>A	XP_005252877.2:p.Arg423Lys
XM_005252821.3:c.1265G>A	XP_005252878.2:p.Arg422Lys
XM_005252822.4:c.1232G>A	XP_005252879.1:p.Arg411Lys
XM_011519949.2:c.1217G>A	XP_011518251.1:p.Arg406Lys
NM_001142649.2:c.1307G>A	NP_001136121.1:p.Arg436Lys
NM_213599.3:c.1310G>A MANE Select	NP_998764.1:p.Arg437Lys