Canonical Allele Identifier: CA5923268

Gene: ANO5

Linked Data

• ClinVar Variation Id: 1147546
• ClinVar RCV Id: RCV001487099 ; RCV004540433
• dbSNP Id: rs745446244
• ExAC: 11:22281139 C / T
• gnomAD v2: 11-22281139-C-T
• gnomAD v3: 11-22259593-C-T
• gnomAD v4: 11-22259593-C-T
• MyVariant Identifiers: chr11:g.22281139C>T (hg19) ; chr11:g.22259593C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259593C>T , CM000673.2:g.22259593C>T	GRCh38
NC_000011.9:g.22281139C>T , CM000673.1:g.22281139C>T	GRCh37
NC_000011.8:g.22237715C>T	NCBI36
NG_015844.1:g.71418C>T , LRG_868:g.71418C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.1032C>T	ENSP00000507766.1:p.Phe344=
ENST00000682341.1:c.1440C>T	ENSP00000508251.1:p.Phe480=
ENST00000683197.1:c.1440C>T	ENSP00000507641.1:p.Phe480=
ENST00000683411.1:c.1032C>T	ENSP00000508397.1:p.Phe344=
ENST00000683437.1:c.1032C>T	ENSP00000508408.1:p.Phe344=
ENST00000683613.1:n.2476C>T
ENST00000684663.1:c.1437C>T	ENSP00000508009.1:p.Phe479=
ENST00000324559.9:c.1482C>T MANE Select	ENSP00000315371.9:p.Phe494=
ENST00000648804.1:n.1817C>T
ENST00000324559.8:c.1482C>T	ENSP00000315371.8:p.Phe494=
NM_001142649.1:c.1479C>T	NP_001136121.1:p.Phe493=
NM_213599.2:c.1482C>T , LRG_868t1:c.1482C>T	NP_998764.1:p.Phe494=
XM_005252820.2:c.1440C>T	XP_005252877.2:p.Phe480=
XM_005252821.2:c.1437C>T	XP_005252878.2:p.Phe479=
XM_005252822.3:c.1404C>T	XP_005252879.1:p.Phe468=
XM_005252823.3:c.1401C>T	XP_005252880.1:p.Phe467=
XM_011519949.1:c.1389C>T	XP_011518251.1:p.Phe463=
XM_005252820.3:c.1440C>T	XP_005252877.2:p.Phe480=
XM_005252821.3:c.1437C>T	XP_005252878.2:p.Phe479=
XM_005252822.4:c.1404C>T	XP_005252879.1:p.Phe468=
XM_011519949.2:c.1389C>T	XP_011518251.1:p.Phe463=
NM_001142649.2:c.1479C>T	NP_001136121.1:p.Phe493=
NM_213599.3:c.1482C>T MANE Select	NP_998764.1:p.Phe494=