Canonical Allele Identifier: CA473404648

Gene: ANO5

Linked Data

• dbSNP Id: rs1183177119
• gnomAD v2: 11-22276921-C-A
• gnomAD v4: 11-22255375-C-A
• MyVariant Identifiers: chr11:g.22276921C>A (hg19) ; chr11:g.22255375C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255375C>A , CM000673.2:g.22255375C>A	GRCh38
NC_000011.9:g.22276921C>A , CM000673.1:g.22276921C>A	GRCh37
NC_000011.8:g.22233497C>A	NCBI36
NG_015844.1:g.67200C>A , LRG_868:g.67200C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.505C>A
ENST00000682266.1:c.735C>A	ENSP00000507766.1:p.Thr245=
ENST00000682341.1:c.1143C>A	ENSP00000508251.1:p.Thr381=
ENST00000682530.1:c.*1117C>A	ENSP00000506805.1:n.*1117C>A
ENST00000683197.1:c.1143C>A	ENSP00000507641.1:p.Thr381=
ENST00000683411.1:c.735C>A	ENSP00000508397.1:p.Thr245=
ENST00000683437.1:c.735C>A	ENSP00000508408.1:p.Thr245=
ENST00000683613.1:n.2179C>A
ENST00000683834.1:n.1385C>A
ENST00000684663.1:c.1140C>A	ENSP00000508009.1:p.Thr380=
ENST00000324559.9:c.1185C>A MANE Select	ENSP00000315371.9:p.Thr395=
ENST00000648804.1:n.1520C>A
ENST00000324559.8:c.1185C>A	ENSP00000315371.8:p.Thr395=
NM_001142649.1:c.1182C>A	NP_001136121.1:p.Thr394=
NM_213599.2:c.1185C>A , LRG_868t1:c.1185C>A	NP_998764.1:p.Thr395=
XM_005252820.2:c.1143C>A	XP_005252877.2:p.Thr381=
XM_005252821.2:c.1140C>A	XP_005252878.2:p.Thr380=
XM_005252822.3:c.1107C>A	XP_005252879.1:p.Thr369=
XM_005252823.3:c.1104C>A	XP_005252880.1:p.Thr368=
XM_011519949.1:c.1092C>A	XP_011518251.1:p.Thr364=
XM_005252820.3:c.1143C>A	XP_005252877.2:p.Thr381=
XM_005252821.3:c.1140C>A	XP_005252878.2:p.Thr380=
XM_005252822.4:c.1107C>A	XP_005252879.1:p.Thr369=
XM_011519949.2:c.1092C>A	XP_011518251.1:p.Thr364=
NM_001142649.2:c.1182C>A	NP_001136121.1:p.Thr394=
NM_213599.3:c.1185C>A MANE Select	NP_998764.1:p.Thr395=