Canonical Allele Identifier: CA379922063

Gene: ANO5

Linked Data

• gnomAD v4: 11-22259565-T-C
• MyVariant Identifiers: chr11:g.22281111T>C (hg19) ; chr11:g.22259565T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259565T>C , CM000673.2:g.22259565T>C	GRCh38
NC_000011.9:g.22281111T>C , CM000673.1:g.22281111T>C	GRCh37
NC_000011.8:g.22237687T>C	NCBI36
NG_015844.1:g.71390T>C , LRG_868:g.71390T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1004T>C	ENSP00000507766.1:p.Leu335Pro
ENST00000682341.1:c.1412T>C	ENSP00000508251.1:p.Leu471Pro
ENST00000683197.1:c.1412T>C	ENSP00000507641.1:p.Leu471Pro
ENST00000683411.1:c.1004T>C	ENSP00000508397.1:p.Leu335Pro
ENST00000683437.1:c.1004T>C	ENSP00000508408.1:p.Leu335Pro
ENST00000683613.1:n.2448T>C
ENST00000684663.1:c.1409T>C	ENSP00000508009.1:p.Leu470Pro
ENST00000324559.9:c.1454T>C MANE Select	ENSP00000315371.9:p.Leu485Pro
ENST00000648804.1:n.1789T>C
ENST00000324559.8:c.1454T>C	ENSP00000315371.8:p.Leu485Pro
NM_001142649.1:c.1451T>C	NP_001136121.1:p.Leu484Pro
NM_213599.2:c.1454T>C , LRG_868t1:c.1454T>C	NP_998764.1:p.Leu485Pro
XM_005252820.2:c.1412T>C	XP_005252877.2:p.Leu471Pro
XM_005252821.2:c.1409T>C	XP_005252878.2:p.Leu470Pro
XM_005252822.3:c.1376T>C	XP_005252879.1:p.Leu459Pro
XM_005252823.3:c.1373T>C	XP_005252880.1:p.Leu458Pro
XM_011519949.1:c.1361T>C	XP_011518251.1:p.Leu454Pro
XM_005252820.3:c.1412T>C	XP_005252877.2:p.Leu471Pro
XM_005252821.3:c.1409T>C	XP_005252878.2:p.Leu470Pro
XM_005252822.4:c.1376T>C	XP_005252879.1:p.Leu459Pro
XM_011519949.2:c.1361T>C	XP_011518251.1:p.Leu454Pro
NM_001142649.2:c.1451T>C	NP_001136121.1:p.Leu484Pro
NM_213599.3:c.1454T>C MANE Select	NP_998764.1:p.Leu485Pro