Canonical Allele Identifier: CA5923183

Gene: ANO5

Linked Data

• dbSNP Id: rs755441788
• ExAC: 11:22276956 G / T
• gnomAD v2: 11-22276956-G-T
• gnomAD v4: 11-22255410-G-T
• MyVariant Identifiers: chr11:g.22276956G>T (hg19) ; chr11:g.22255410G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255410G>T , CM000673.2:g.22255410G>T	GRCh38
NC_000011.9:g.22276956G>T , CM000673.1:g.22276956G>T	GRCh37
NC_000011.8:g.22233532G>T	NCBI36
NG_015844.1:g.67235G>T , LRG_868:g.67235G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.540G>T
ENST00000682266.1:c.770G>T	ENSP00000507766.1:p.Arg257Ile
ENST00000682341.1:c.1178G>T	ENSP00000508251.1:p.Arg393Ile
ENST00000682530.1:c.*1152G>T	ENSP00000506805.1:n.*1152G>T
ENST00000683197.1:c.1178G>T	ENSP00000507641.1:p.Arg393Ile
ENST00000683411.1:c.770G>T	ENSP00000508397.1:p.Arg257Ile
ENST00000683437.1:c.770G>T	ENSP00000508408.1:p.Arg257Ile
ENST00000683613.1:n.2214G>T
ENST00000683834.1:n.1420G>T
ENST00000684663.1:c.1175G>T	ENSP00000508009.1:p.Arg392Ile
ENST00000324559.9:c.1220G>T MANE Select	ENSP00000315371.9:p.Arg407Ile
ENST00000648804.1:n.1555G>T
ENST00000324559.8:c.1220G>T	ENSP00000315371.8:p.Arg407Ile
NM_001142649.1:c.1217G>T	NP_001136121.1:p.Arg406Ile
NM_213599.2:c.1220G>T , LRG_868t1:c.1220G>T	NP_998764.1:p.Arg407Ile
XM_005252820.2:c.1178G>T	XP_005252877.2:p.Arg393Ile
XM_005252821.2:c.1175G>T	XP_005252878.2:p.Arg392Ile
XM_005252822.3:c.1142G>T	XP_005252879.1:p.Arg381Ile
XM_005252823.3:c.1139G>T	XP_005252880.1:p.Arg380Ile
XM_011519949.1:c.1127G>T	XP_011518251.1:p.Arg376Ile
XM_005252820.3:c.1178G>T	XP_005252877.2:p.Arg393Ile
XM_005252821.3:c.1175G>T	XP_005252878.2:p.Arg392Ile
XM_005252822.4:c.1142G>T	XP_005252879.1:p.Arg381Ile
XM_011519949.2:c.1127G>T	XP_011518251.1:p.Arg376Ile
NM_001142649.2:c.1217G>T	NP_001136121.1:p.Arg406Ile
NM_213599.3:c.1220G>T MANE Select	NP_998764.1:p.Arg407Ile