Canonical Allele Identifier: CA473407330

Gene: ANO5

Linked Data

• ClinVar Variation Id: 1581132
• ClinVar RCV Id: RCV002086145
• dbSNP Id: rs1289517485
• gnomAD v4: 11-22262981-C-A
• MyVariant Identifiers: chr11:g.22284527C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22262981C>A , CM000673.2:g.22262981C>A	GRCh38
NC_000011.9:g.22284527C>A , CM000673.1:g.22284527C>A	GRCh37
NC_000011.8:g.22241103C>A	NCBI36
NG_015844.1:g.74806C>A , LRG_868:g.74806C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1386C>A	ENSP00000507766.1:p.Thr462=
ENST00000682341.1:c.1794C>A	ENSP00000508251.1:p.Thr598=
ENST00000683197.1:c.1794C>A	ENSP00000507641.1:p.Thr598=
ENST00000683411.1:c.1386C>A	ENSP00000508397.1:p.Thr462=
ENST00000683437.1:c.1386C>A	ENSP00000508408.1:p.Thr462=
ENST00000683613.1:n.2830C>A
ENST00000684663.1:c.1791C>A	ENSP00000508009.1:p.Thr597=
ENST00000324559.9:c.1836C>A MANE Select	ENSP00000315371.9:p.Thr612=
ENST00000648804.1:n.2171C>A
ENST00000324559.8:c.1836C>A	ENSP00000315371.8:p.Thr612=
NM_001142649.1:c.1833C>A	NP_001136121.1:p.Thr611=
NM_213599.2:c.1836C>A , LRG_868t1:c.1836C>A	NP_998764.1:p.Thr612=
XM_005252820.2:c.1794C>A	XP_005252877.2:p.Thr598=
XM_005252821.2:c.1791C>A	XP_005252878.2:p.Thr597=
XM_005252822.3:c.1758C>A	XP_005252879.1:p.Thr586=
XM_005252823.3:c.1755C>A	XP_005252880.1:p.Thr585=
XM_011519949.1:c.1743C>A	XP_011518251.1:p.Thr581=
XM_005252820.3:c.1794C>A	XP_005252877.2:p.Thr598=
XM_005252821.3:c.1791C>A	XP_005252878.2:p.Thr597=
XM_005252822.4:c.1758C>A	XP_005252879.1:p.Thr586=
XM_011519949.2:c.1743C>A	XP_011518251.1:p.Thr581=
NM_001142649.2:c.1833C>A	NP_001136121.1:p.Thr611=
NM_213599.3:c.1836C>A MANE Select	NP_998764.1:p.Thr612=