Canonical Allele Identifier: CA379920873

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250347T>A , CM000673.2:g.22250347T>A	GRCh38
NC_000011.9:g.22271893T>A , CM000673.1:g.22271893T>A	GRCh37
NC_000011.8:g.22228469T>A	NCBI36
NG_015844.1:g.62172T>A , LRG_868:g.62172T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.989T>A MANE Select	NP_998764.1:p.Leu330Ter
ENST00000324559.9:c.989T>A MANE Select	ENSP00000315371.9:p.Leu330Ter
NM_001142649.1:c.986T>A	NP_001136121.1:p.Leu329Ter
NM_001142649.2:c.986T>A	NP_001136121.1:p.Leu329Ter
NM_213599.2:c.989T>A , LRG_868t1:c.989T>A	NP_998764.1:p.Leu330Ter
ENST00000324559.8:c.989T>A	ENSP00000315371.8:p.Leu330Ter
ENST00000648804.1:n.1324T>A
ENST00000682089.1:n.309T>A
ENST00000682266.1:c.539T>A	ENSP00000507766.1:p.Leu180Ter
ENST00000682341.1:c.947T>A	ENSP00000508251.1:p.Leu316Ter
ENST00000682530.1:c.*921T>A	ENSP00000506805.1:n.*921T>A
ENST00000683197.1:c.947T>A	ENSP00000507641.1:p.Leu316Ter
ENST00000683411.1:c.539T>A	ENSP00000508397.1:p.Leu180Ter
ENST00000683437.1:c.539T>A	ENSP00000508408.1:p.Leu180Ter
ENST00000683613.1:n.1983T>A
ENST00000683834.1:n.1189T>A
ENST00000684663.1:c.944T>A	ENSP00000508009.1:p.Leu315Ter
XM_005252820.2:c.947T>A	XP_005252877.2:p.Leu316Ter
XM_005252820.3:c.947T>A	XP_005252877.2:p.Leu316Ter
XM_005252821.2:c.944T>A	XP_005252878.2:p.Leu315Ter
XM_005252821.3:c.944T>A	XP_005252878.2:p.Leu315Ter
XM_005252822.3:c.911T>A	XP_005252879.1:p.Leu304Ter
XM_005252822.4:c.911T>A	XP_005252879.1:p.Leu304Ter
XM_005252823.3:c.908T>A	XP_005252880.1:p.Leu303Ter
XM_011519949.1:c.896T>A	XP_011518251.1:p.Leu299Ter
XM_011519949.2:c.896T>A	XP_011518251.1:p.Leu299Ter