Canonical Allele Identifier: CA674628693

Gene: ANO5

Linked Data

• dbSNP Id: rs1382946533
• gnomAD v4: 11-22255366-T-C
• MyVariant Identifiers: chr11:g.22276912T>C (hg19) ; chr11:g.22255366T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255366T>C , CM000673.2:g.22255366T>C	GRCh38
NC_000011.9:g.22276912T>C , CM000673.1:g.22276912T>C	GRCh37
NC_000011.8:g.22233488T>C	NCBI36
NG_015844.1:g.67191T>C , LRG_868:g.67191T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.501-5T>C
ENST00000682266.1:c.731-5T>C	ENSP00000507766.1:n.731-5T>C
ENST00000682341.1:c.1139-5T>C	ENSP00000508251.1:n.1139-5T>C
ENST00000682530.1:c.*1113-5T>C	ENSP00000506805.1:n.*1113-5T>C
ENST00000683197.1:c.1139-5T>C	ENSP00000507641.1:n.1139-5T>C
ENST00000683411.1:c.731-5T>C	ENSP00000508397.1:n.731-5T>C
ENST00000683437.1:c.731-5T>C	ENSP00000508408.1:n.731-5T>C
ENST00000683613.1:n.2175-5T>C
ENST00000683834.1:n.1381-5T>C
ENST00000684663.1:c.1136-5T>C	ENSP00000508009.1:n.1136-5T>C
ENST00000324559.9:c.1181-5T>C MANE Select	ENSP00000315371.9:n.1181-5T>C
ENST00000648804.1:n.1516-5T>C
ENST00000324559.8:c.1181-5T>C	ENSP00000315371.8:n.1181-5T>C
NM_001142649.1:c.1178-5T>C	NP_001136121.1:n.1178-5T>C
NM_213599.2:c.1181-5T>C , LRG_868t1:c.1181-5T>C	NP_998764.1:n.1181-5T>C
XM_005252820.2:c.1139-5T>C	XP_005252877.2:n.1139-5T>C
XM_005252821.2:c.1136-5T>C	XP_005252878.2:n.1136-5T>C
XM_005252822.3:c.1103-5T>C	XP_005252879.1:n.1103-5T>C
XM_005252823.3:c.1100-5T>C	XP_005252880.1:n.1100-5T>C
XM_011519949.1:c.1088-5T>C	XP_011518251.1:n.1088-5T>C
XM_005252820.3:c.1139-5T>C	XP_005252877.2:n.1139-5T>C
XM_005252821.3:c.1136-5T>C	XP_005252878.2:n.1136-5T>C
XM_005252822.4:c.1103-5T>C	XP_005252879.1:n.1103-5T>C
XM_011519949.2:c.1088-5T>C	XP_011518251.1:n.1088-5T>C
NM_001142649.2:c.1178-5T>C	NP_001136121.1:n.1178-5T>C
NM_213599.3:c.1181-5T>C MANE Select	NP_998764.1:n.1181-5T>C