Canonical Allele Identifier: CA379923990

Gene: ANO5

Linked Data

• gnomAD v4: 11-22272954-C-G
• MyVariant Identifiers: chr11:g.22294500C>G (hg19) ; chr11:g.22272954C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272954C>G , CM000673.2:g.22272954C>G	GRCh38
NC_000011.9:g.22294500C>G , CM000673.1:g.22294500C>G	GRCh37
NC_000011.8:g.22251076C>G	NCBI36
NG_015844.1:g.84779C>G , LRG_868:g.84779C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.217C>G
ENST00000682266.1:c.1750C>G	ENSP00000507766.1:p.Leu584Val
ENST00000682341.1:c.2158C>G	ENSP00000508251.1:p.Leu720Val
ENST00000683197.1:c.2158C>G	ENSP00000507641.1:p.Leu720Val
ENST00000683411.1:c.1750C>G	ENSP00000508397.1:p.Leu584Val
ENST00000683437.1:c.1750C>G	ENSP00000508408.1:p.Leu584Val
ENST00000683613.1:n.3194C>G
ENST00000684663.1:c.2155C>G	ENSP00000508009.1:p.Leu719Val
ENST00000324559.9:c.2200C>G MANE Select	ENSP00000315371.9:p.Leu734Val
ENST00000648804.1:n.2535C>G
ENST00000324559.8:c.2200C>G	ENSP00000315371.8:p.Leu734Val
ENST00000532043.1:n.217C>G
NM_001142649.1:c.2197C>G	NP_001136121.1:p.Leu733Val
NM_213599.2:c.2200C>G , LRG_868t1:c.2200C>G	NP_998764.1:p.Leu734Val
XM_005252820.2:c.2158C>G	XP_005252877.2:p.Leu720Val
XM_005252821.2:c.2155C>G	XP_005252878.2:p.Leu719Val
XM_005252822.3:c.2122C>G	XP_005252879.1:p.Leu708Val
XM_005252823.3:c.2119C>G	XP_005252880.1:p.Leu707Val
XM_011519949.1:c.2107C>G	XP_011518251.1:p.Leu703Val
XM_005252820.3:c.2158C>G	XP_005252877.2:p.Leu720Val
XM_005252821.3:c.2155C>G	XP_005252878.2:p.Leu719Val
XM_005252822.4:c.2122C>G	XP_005252879.1:p.Leu708Val
XM_011519949.2:c.2107C>G	XP_011518251.1:p.Leu703Val
NM_001142649.2:c.2197C>G	NP_001136121.1:p.Leu733Val
NM_213599.3:c.2200C>G MANE Select	NP_998764.1:p.Leu734Val