Canonical Allele Identifier: CA218765552

Gene: ANO5

Linked Data

• dbSNP Id: rs368588064
• gnomAD v2: 11-22281022-G-C
• gnomAD v3: 11-22259476-G-C
• gnomAD v4: 11-22259476-G-C
• MyVariant Identifiers: chr11:g.22281022G>C (hg19) ; chr11:g.22259476G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259476G>C , CM000673.2:g.22259476G>C	GRCh38
NC_000011.9:g.22281022G>C , CM000673.1:g.22281022G>C	GRCh37
NC_000011.8:g.22237598G>C	NCBI36
NG_015844.1:g.71301G>C , LRG_868:g.71301G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.958-43G>C	ENSP00000507766.1:n.958-43G>C
ENST00000682341.1:c.1366-43G>C	ENSP00000508251.1:n.1366-43G>C
ENST00000683197.1:c.1366-43G>C	ENSP00000507641.1:n.1366-43G>C
ENST00000683411.1:c.958-43G>C	ENSP00000508397.1:n.958-43G>C
ENST00000683437.1:c.958-43G>C	ENSP00000508408.1:n.958-43G>C
ENST00000683613.1:n.2402-43G>C
ENST00000684663.1:c.1363-43G>C	ENSP00000508009.1:n.1363-43G>C
ENST00000324559.9:c.1408-43G>C MANE Select	ENSP00000315371.9:n.1408-43G>C
ENST00000648804.1:n.1743-43G>C
ENST00000324559.8:c.1408-43G>C	ENSP00000315371.8:n.1408-43G>C
NM_001142649.1:c.1405-43G>C	NP_001136121.1:n.1405-43G>C
NM_213599.2:c.1408-43G>C , LRG_868t1:c.1408-43G>C	NP_998764.1:n.1408-43G>C
XM_005252820.2:c.1366-43G>C	XP_005252877.2:n.1366-43G>C
XM_005252821.2:c.1363-43G>C	XP_005252878.2:n.1363-43G>C
XM_005252822.3:c.1330-43G>C	XP_005252879.1:n.1330-43G>C
XM_005252823.3:c.1327-43G>C	XP_005252880.1:n.1327-43G>C
XM_011519949.1:c.1315-43G>C	XP_011518251.1:n.1315-43G>C
XM_005252820.3:c.1366-43G>C	XP_005252877.2:n.1366-43G>C
XM_005252821.3:c.1363-43G>C	XP_005252878.2:n.1363-43G>C
XM_005252822.4:c.1330-43G>C	XP_005252879.1:n.1330-43G>C
XM_011519949.2:c.1315-43G>C	XP_011518251.1:n.1315-43G>C
NM_001142649.2:c.1405-43G>C	NP_001136121.1:n.1405-43G>C
NM_213599.3:c.1408-43G>C MANE Select	NP_998764.1:n.1408-43G>C