Canonical Allele Identifier: CA218773192

Gene: ANO5

Linked Data

• dbSNP Id: rs1038044452
• gnomAD v4: 11-22218173-C-T
• MyVariant Identifiers: chr11:g.22239719C>T (hg19) ; chr11:g.22218173C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22218173C>T , CM000673.2:g.22218173C>T	GRCh38
NC_000011.9:g.22239719C>T , CM000673.1:g.22239719C>T	GRCh37
NC_000011.8:g.22196295C>T	NCBI36
NG_015844.1:g.29998C>T , LRG_868:g.29998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682084.1:n.3313-73C>T
ENST00000682266.1:c.-270-2924C>T	ENSP00000507766.1:n.-270-2924C>T
ENST00000682341.1:c.139-2924C>T	ENSP00000508251.1:n.139-2924C>T
ENST00000682530.1:c.136-570C>T	ENSP00000506805.1:n.136-570C>T
ENST00000682684.1:n.560-2924C>T
ENST00000683197.1:c.139-2924C>T	ENSP00000507641.1:n.139-2924C>T
ENST00000683411.1:c.-270-2924C>T	ENSP00000508397.1:n.-270-2924C>T
ENST00000683437.1:c.-270-2924C>T	ENSP00000508408.1:n.-270-2924C>T
ENST00000683834.1:n.381-2924C>T
ENST00000683897.1:n.425-2924C>T
ENST00000684365.1:n.550-2924C>T
ENST00000684663.1:c.136-2924C>T	ENSP00000508009.1:n.136-2924C>T
ENST00000324559.9:c.139-73C>T MANE Select	ENSP00000315371.9:n.139-73C>T
ENST00000648804.1:n.670-413C>T
ENST00000324559.8:c.139-73C>T	ENSP00000315371.8:n.139-73C>T
NM_001142649.1:c.136-73C>T	NP_001136121.1:n.136-73C>T
NM_213599.2:c.139-73C>T , LRG_868t1:c.139-73C>T	NP_998764.1:n.139-73C>T
XM_005252820.2:c.139-2924C>T	XP_005252877.2:n.139-2924C>T
XM_005252821.2:c.136-2924C>T	XP_005252878.2:n.136-2924C>T
XM_005252822.3:c.61-73C>T	XP_005252879.1:n.61-73C>T
XM_005252823.3:c.58-73C>T	XP_005252880.1:n.58-73C>T
XM_011519949.1:c.88-2924C>T	XP_011518251.1:n.88-2924C>T
XM_005252820.3:c.139-2924C>T	XP_005252877.2:n.139-2924C>T
XM_005252821.3:c.136-2924C>T	XP_005252878.2:n.136-2924C>T
XM_005252822.4:c.61-73C>T	XP_005252879.1:n.61-73C>T
XM_011519949.2:c.88-2924C>T	XP_011518251.1:n.88-2924C>T
NM_001142649.2:c.136-73C>T	NP_001136121.1:n.136-73C>T
NM_213599.3:c.139-73C>T MANE Select	NP_998764.1:n.139-73C>T