Canonical Allele Identifier: CA5923179

Gene: ANO5

Linked Data

• ClinVar Variation Id: 1035335
• ClinVar RCV Id: RCV001338189
• dbSNP Id: rs149656183
• ExAC: 11:22276937 T / C
• gnomAD v2: 11-22276937-T-C
• gnomAD v3: 11-22255391-T-C
• gnomAD v4: 11-22255391-T-C
• MyVariant Identifiers: chr11:g.22276937T>C (hg19) ; chr11:g.22255391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255391T>C , CM000673.2:g.22255391T>C	GRCh38
NC_000011.9:g.22276937T>C , CM000673.1:g.22276937T>C	GRCh37
NC_000011.8:g.22233513T>C	NCBI36
NG_015844.1:g.67216T>C , LRG_868:g.67216T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.521T>C
ENST00000682266.1:c.751T>C	ENSP00000507766.1:p.Trp251Arg
ENST00000682341.1:c.1159T>C	ENSP00000508251.1:p.Trp387Arg
ENST00000682530.1:c.*1133T>C	ENSP00000506805.1:n.*1133T>C
ENST00000683197.1:c.1159T>C	ENSP00000507641.1:p.Trp387Arg
ENST00000683411.1:c.751T>C	ENSP00000508397.1:p.Trp251Arg
ENST00000683437.1:c.751T>C	ENSP00000508408.1:p.Trp251Arg
ENST00000683613.1:n.2195T>C
ENST00000683834.1:n.1401T>C
ENST00000684663.1:c.1156T>C	ENSP00000508009.1:p.Trp386Arg
ENST00000324559.9:c.1201T>C MANE Select	ENSP00000315371.9:p.Trp401Arg
ENST00000648804.1:n.1536T>C
ENST00000324559.8:c.1201T>C	ENSP00000315371.8:p.Trp401Arg
NM_001142649.1:c.1198T>C	NP_001136121.1:p.Trp400Arg
NM_213599.2:c.1201T>C , LRG_868t1:c.1201T>C	NP_998764.1:p.Trp401Arg
XM_005252820.2:c.1159T>C	XP_005252877.2:p.Trp387Arg
XM_005252821.2:c.1156T>C	XP_005252878.2:p.Trp386Arg
XM_005252822.3:c.1123T>C	XP_005252879.1:p.Trp375Arg
XM_005252823.3:c.1120T>C	XP_005252880.1:p.Trp374Arg
XM_011519949.1:c.1108T>C	XP_011518251.1:p.Trp370Arg
XM_005252820.3:c.1159T>C	XP_005252877.2:p.Trp387Arg
XM_005252821.3:c.1156T>C	XP_005252878.2:p.Trp386Arg
XM_005252822.4:c.1123T>C	XP_005252879.1:p.Trp375Arg
XM_011519949.2:c.1108T>C	XP_011518251.1:p.Trp370Arg
NM_001142649.2:c.1198T>C	NP_001136121.1:p.Trp400Arg
NM_213599.3:c.1201T>C MANE Select	NP_998764.1:p.Trp401Arg