Canonical Allele Identifier: CA10603949

Gene: ANO5

Linked Data

• ClinVar Variation Id: 281697
• ClinVar RCV Id: RCV000362341
• dbSNP Id: rs886042217
• gnomAD v2: 11-22279216-A-C
• gnomAD v4: 11-22257670-A-C
• MyVariant Identifiers: chr11:g.22279216A>C (hg19) ; chr11:g.22257670A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22257670A>C , CM000673.2:g.22257670A>C	GRCh38
NC_000011.9:g.22279216A>C , CM000673.1:g.22279216A>C	GRCh37
NC_000011.8:g.22235792A>C	NCBI36
NG_015844.1:g.69495A>C , LRG_868:g.69495A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.883-10A>C	ENSP00000507766.1:n.883-10A>C
ENST00000682341.1:c.1291-10A>C	ENSP00000508251.1:n.1291-10A>C
ENST00000683197.1:c.1291-10A>C	ENSP00000507641.1:n.1291-10A>C
ENST00000683411.1:c.883-10A>C	ENSP00000508397.1:n.883-10A>C
ENST00000683437.1:c.883-10A>C	ENSP00000508408.1:n.883-10A>C
ENST00000683613.1:n.2327-10A>C
ENST00000684663.1:c.1288-10A>C	ENSP00000508009.1:n.1288-10A>C
ENST00000324559.9:c.1333-10A>C MANE Select	ENSP00000315371.9:n.1333-10A>C
ENST00000648804.1:n.1668-10A>C
ENST00000324559.8:c.1333-10A>C	ENSP00000315371.8:n.1333-10A>C
NM_001142649.1:c.1330-10A>C	NP_001136121.1:n.1330-10A>C
NM_213599.2:c.1333-10A>C , LRG_868t1:c.1333-10A>C	NP_998764.1:n.1333-10A>C
XM_005252820.2:c.1291-10A>C	XP_005252877.2:n.1291-10A>C
XM_005252821.2:c.1288-10A>C	XP_005252878.2:n.1288-10A>C
XM_005252822.3:c.1255-10A>C	XP_005252879.1:n.1255-10A>C
XM_005252823.3:c.1252-10A>C	XP_005252880.1:n.1252-10A>C
XM_011519949.1:c.1240-10A>C	XP_011518251.1:n.1240-10A>C
XM_005252820.3:c.1291-10A>C	XP_005252877.2:n.1291-10A>C
XM_005252821.3:c.1288-10A>C	XP_005252878.2:n.1288-10A>C
XM_005252822.4:c.1255-10A>C	XP_005252879.1:n.1255-10A>C
XM_011519949.2:c.1240-10A>C	XP_011518251.1:n.1240-10A>C
NM_001142649.2:c.1330-10A>C	NP_001136121.1:n.1330-10A>C
NM_213599.3:c.1333-10A>C MANE Select	NP_998764.1:n.1333-10A>C