Canonical Allele Identifier: CA473404665

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22276954C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255408C>T , CM000673.2:g.22255408C>T	GRCh38
NC_000011.9:g.22276954C>T , CM000673.1:g.22276954C>T	GRCh37
NC_000011.8:g.22233530C>T	NCBI36
NG_015844.1:g.67233C>T , LRG_868:g.67233C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.538C>T
ENST00000682266.1:c.768C>T	ENSP00000507766.1:p.Ala256=
ENST00000682341.1:c.1176C>T	ENSP00000508251.1:p.Ala392=
ENST00000682530.1:c.*1150C>T	ENSP00000506805.1:n.*1150C>T
ENST00000683197.1:c.1176C>T	ENSP00000507641.1:p.Ala392=
ENST00000683411.1:c.768C>T	ENSP00000508397.1:p.Ala256=
ENST00000683437.1:c.768C>T	ENSP00000508408.1:p.Ala256=
ENST00000683613.1:n.2212C>T
ENST00000683834.1:n.1418C>T
ENST00000684663.1:c.1173C>T	ENSP00000508009.1:p.Ala391=
ENST00000324559.9:c.1218C>T MANE Select	ENSP00000315371.9:p.Ala406=
ENST00000648804.1:n.1553C>T
ENST00000324559.8:c.1218C>T	ENSP00000315371.8:p.Ala406=
NM_001142649.1:c.1215C>T	NP_001136121.1:p.Ala405=
NM_213599.2:c.1218C>T , LRG_868t1:c.1218C>T	NP_998764.1:p.Ala406=
XM_005252820.2:c.1176C>T	XP_005252877.2:p.Ala392=
XM_005252821.2:c.1173C>T	XP_005252878.2:p.Ala391=
XM_005252822.3:c.1140C>T	XP_005252879.1:p.Ala380=
XM_005252823.3:c.1137C>T	XP_005252880.1:p.Ala379=
XM_011519949.1:c.1125C>T	XP_011518251.1:p.Ala375=
XM_005252820.3:c.1176C>T	XP_005252877.2:p.Ala392=
XM_005252821.3:c.1173C>T	XP_005252878.2:p.Ala391=
XM_005252822.4:c.1140C>T	XP_005252879.1:p.Ala380=
XM_011519949.2:c.1125C>T	XP_011518251.1:p.Ala375=
NM_001142649.2:c.1215C>T	NP_001136121.1:p.Ala405=
NM_213599.3:c.1218C>T MANE Select	NP_998764.1:p.Ala406=