Canonical Allele Identifier: CA10638220

Gene: ANO5

Linked Data

• ClinVar Variation Id: 304161
• ClinVar RCV Id: RCV000310704 ; RCV000348396 ; RCV001105785 ; RCV001785554
• dbSNP Id: rs78929863
• gnomAD v2: 11-22304466-T-C
• gnomAD v3: 11-22282920-T-C
• gnomAD v4: 11-22282920-T-C
• MyVariant Identifiers: chr11:g.22304466T>C (hg19) ; chr11:g.22282920T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22282920T>C , CM000673.2:g.22282920T>C	GRCh38
NC_000011.9:g.22304466T>C , CM000673.1:g.22304466T>C	GRCh37
NC_000011.8:g.22261042T>C	NCBI36
NG_015844.1:g.94745T>C , LRG_868:g.94745T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.*3155T>C	ENSP00000507766.1:n.*3155T>C
ENST00000682341.1:c.*3155T>C	ENSP00000508251.1:n.*3155T>C
ENST00000683197.1:c.*3361T>C	ENSP00000507641.1:n.*3361T>C
ENST00000683411.1:c.*3155T>C	ENSP00000508397.1:n.*3155T>C
ENST00000683437.1:c.*3155T>C	ENSP00000508408.1:n.*3155T>C
ENST00000683613.1:n.6891T>C
ENST00000684663.1:c.*3155T>C	ENSP00000508009.1:n.*3155T>C
ENST00000324559.9:c.*3155T>C MANE Select	ENSP00000315371.9:n.*3155T>C
ENST00000648804.1:n.6232T>C
ENST00000324559.8:c.*3155T>C	ENSP00000315371.8:n.*3155T>C
NM_001142649.1:c.*3155T>C	NP_001136121.1:n.*3155T>C
NM_213599.2:c.*3155T>C , LRG_868t1:c.*3155T>C	NP_998764.1:n.*3155T>C
XM_005252820.2:c.*3155T>C	XP_005252877.2:n.*3155T>C
XM_005252821.2:c.*3155T>C	XP_005252878.2:n.*3155T>C
XM_005252822.3:c.*3155T>C	XP_005252879.1:n.*3155T>C
XM_005252823.3:c.*3155T>C	XP_005252880.1:n.*3155T>C
XM_011519949.1:c.*3155T>C	XP_011518251.1:n.*3155T>C
XM_005252821.3:c.*3155T>C	XP_005252878.2:n.*3155T>C
NM_001142649.2:c.*3155T>C	NP_001136121.1:n.*3155T>C
NM_213599.3:c.*3155T>C MANE Select	NP_998764.1:n.*3155T>C