Canonical Allele Identifier: CA10638768

Gene: ANO5

Linked Data

• ClinVar Variation Id: 304089
• ClinVar RCV Id: RCV000288149 ; RCV000384837 ; RCV001105395 ; RCV001545248
• dbSNP Id: rs114897158
• gnomAD v2: 11-22214778-A-C
• gnomAD v3: 11-22193232-A-C
• gnomAD v4: 11-22193232-A-C
• MyVariant Identifiers: chr11:g.22214778A>C (hg19) ; chr11:g.22193232A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22193232A>C , CM000673.2:g.22193232A>C	GRCh38
NC_000011.9:g.22214778A>C , CM000673.1:g.22214778A>C	GRCh37
NC_000011.8:g.22171354A>C	NCBI36
NG_015844.1:g.5057A>C , LRG_868:g.5057A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.-622A>C	ENSP00000507766.1:n.-622A>C
ENST00000682341.1:c.-261A>C	ENSP00000508251.1:n.-261A>C
ENST00000682530.1:c.-261A>C	ENSP00000506805.1:n.-261A>C
ENST00000682684.1:n.164A>C
ENST00000683197.1:c.-261A>C	ENSP00000507641.1:n.-261A>C
ENST00000683411.1:c.-683A>C	ENSP00000508397.1:n.-683A>C
ENST00000683437.1:c.-571A>C	ENSP00000508408.1:n.-571A>C
ENST00000683897.1:n.26A>C
ENST00000684365.1:n.154A>C
ENST00000684663.1:c.-261A>C	ENSP00000508009.1:n.-261A>C
ENST00000324559.9:c.-261A>C MANE Select	ENSP00000315371.9:n.-261A>C
ENST00000648804.1:n.545-10572A>C
ENST00000324559.8:c.-261A>C	ENSP00000315371.8:n.-261A>C
NM_001142649.1:c.-261A>C	NP_001136121.1:n.-261A>C
NM_213599.2:c.-261A>C , LRG_868t1:c.-261A>C	NP_998764.1:n.-261A>C
XM_005252820.2:c.-261A>C	XP_005252877.2:n.-261A>C
XM_005252821.2:c.-261A>C	XP_005252878.2:n.-261A>C
XM_005252822.3:c.-39+506A>C	XP_005252879.1:n.-39+506A>C
XM_005252823.3:c.-39+506A>C	XP_005252880.1:n.-39+506A>C
XM_011519949.1:c.-261A>C	XP_011518251.1:n.-261A>C
XM_005252820.3:c.-261A>C	XP_005252877.2:n.-261A>C
XM_005252821.3:c.-261A>C	XP_005252878.2:n.-261A>C
XM_005252822.4:c.-39+506A>C	XP_005252879.1:n.-39+506A>C
XM_011519949.2:c.-261A>C	XP_011518251.1:n.-261A>C
NM_001142649.2:c.-261A>C	NP_001136121.1:n.-261A>C
NM_213599.3:c.-261A>C MANE Select	NP_998764.1:n.-261A>C