Canonical Allele Identifier: CA379919370

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22227333A>T , CM000673.2:g.22227333A>T	GRCh38
NC_000011.9:g.22248879A>T , CM000673.1:g.22248879A>T	GRCh37
NC_000011.8:g.22205455A>T	NCBI36
NG_015844.1:g.39158A>T , LRG_868:g.39158A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.395A>T MANE Select	NP_998764.1:p.Lys132Met
ENST00000324559.9:c.395A>T MANE Select	ENSP00000315371.9:p.Lys132Met
NM_001142649.1:c.392A>T	NP_001136121.1:p.Lys131Met
NM_001142649.2:c.392A>T	NP_001136121.1:p.Lys131Met
NM_213599.2:c.395A>T , LRG_868t1:c.395A>T	NP_998764.1:p.Lys132Met
ENST00000324559.8:c.395A>T	ENSP00000315371.8:p.Lys132Met
ENST00000648804.1:n.960A>T
ENST00000682266.1:c.-56A>T	ENSP00000507766.1:n.-56A>T
ENST00000682341.1:c.353A>T	ENSP00000508251.1:p.Lys118Met
ENST00000682530.1:c.*327A>T	ENSP00000506805.1:n.*327A>T
ENST00000682684.1:n.774A>T
ENST00000683197.1:c.353A>T	ENSP00000507641.1:p.Lys118Met
ENST00000683411.1:c.-56A>T	ENSP00000508397.1:n.-56A>T
ENST00000683437.1:c.-56A>T	ENSP00000508408.1:n.-56A>T
ENST00000683613.1:n.1389A>T
ENST00000683834.1:n.595A>T
ENST00000684663.1:c.350A>T	ENSP00000508009.1:p.Lys117Met
XM_005252820.2:c.353A>T	XP_005252877.2:p.Lys118Met
XM_005252820.3:c.353A>T	XP_005252877.2:p.Lys118Met
XM_005252821.2:c.350A>T	XP_005252878.2:p.Lys117Met
XM_005252821.3:c.350A>T	XP_005252878.2:p.Lys117Met
XM_005252822.3:c.317A>T	XP_005252879.1:p.Lys106Met
XM_005252822.4:c.317A>T	XP_005252879.1:p.Lys106Met
XM_005252823.3:c.314A>T	XP_005252880.1:p.Lys105Met
XM_011519949.1:c.302A>T	XP_011518251.1:p.Lys101Met
XM_011519949.2:c.302A>T	XP_011518251.1:p.Lys101Met