Canonical Allele Identifier: CA379920370

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22239572C>T , CM000673.2:g.22239572C>T	GRCh38
NC_000011.9:g.22261118C>T , CM000673.1:g.22261118C>T	GRCh37
NC_000011.8:g.22217694C>T	NCBI36
NG_015844.1:g.51397C>T , LRG_868:g.51397C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.766C>T MANE Select	NP_998764.1:p.Gln256Ter
ENST00000324559.9:c.766C>T MANE Select	ENSP00000315371.9:p.Gln256Ter
NM_001142649.1:c.763C>T	NP_001136121.1:p.Gln255Ter
NM_001142649.2:c.763C>T	NP_001136121.1:p.Gln255Ter
NM_213599.2:c.766C>T , LRG_868t1:c.766C>T	NP_998764.1:p.Gln256Ter
ENST00000324559.8:c.766C>T	ENSP00000315371.8:p.Gln256Ter
ENST00000648804.1:n.1214-10665C>T
ENST00000682266.1:c.316C>T	ENSP00000507766.1:p.Gln106Ter
ENST00000682341.1:c.724C>T	ENSP00000508251.1:p.Gln242Ter
ENST00000682530.1:c.*698C>T	ENSP00000506805.1:n.*698C>T
ENST00000682684.1:n.1145C>T
ENST00000683197.1:c.724C>T	ENSP00000507641.1:p.Gln242Ter
ENST00000683411.1:c.316C>T	ENSP00000508397.1:p.Gln106Ter
ENST00000683437.1:c.316C>T	ENSP00000508408.1:p.Gln106Ter
ENST00000683613.1:n.1760C>T
ENST00000683834.1:n.966C>T
ENST00000684663.1:c.721C>T	ENSP00000508009.1:p.Gln241Ter
XM_005252820.2:c.724C>T	XP_005252877.2:p.Gln242Ter
XM_005252820.3:c.724C>T	XP_005252877.2:p.Gln242Ter
XM_005252821.2:c.721C>T	XP_005252878.2:p.Gln241Ter
XM_005252821.3:c.721C>T	XP_005252878.2:p.Gln241Ter
XM_005252822.3:c.688C>T	XP_005252879.1:p.Gln230Ter
XM_005252822.4:c.688C>T	XP_005252879.1:p.Gln230Ter
XM_005252823.3:c.685C>T	XP_005252880.1:p.Gln229Ter
XM_011519949.1:c.673C>T	XP_011518251.1:p.Gln225Ter
XM_011519949.2:c.673C>T	XP_011518251.1:p.Gln225Ter