Canonical Allele Identifier: CA5923316

Gene: ANO5

Linked Data

• ClinVar Variation Id: 282394
• ClinVar RCV Id: RCV000322343 ; RCV000758149 ; RCV000778318 ; RCV000807697 ; RCV003323487
• dbSNP Id: rs139618850
• ExAC: 11:22283684 G / A
• gnomAD v2: 11-22283684-G-A
• gnomAD v3: 11-22262138-G-A
• gnomAD v4: 11-22262138-G-A
• MyVariant Identifiers: chr11:g.22283684G>A (hg19) ; chr11:g.22262138G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22262138G>A , CM000673.2:g.22262138G>A	GRCh38
NC_000011.9:g.22283684G>A , CM000673.1:g.22283684G>A	GRCh37
NC_000011.8:g.22240260G>A	NCBI36
NG_015844.1:g.73963G>A , LRG_868:g.73963G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1190G>A	ENSP00000507766.1:p.Arg397Gln
ENST00000682341.1:c.1598G>A	ENSP00000508251.1:p.Arg533Gln
ENST00000683197.1:c.1598G>A	ENSP00000507641.1:p.Arg533Gln
ENST00000683411.1:c.1190G>A	ENSP00000508397.1:p.Arg397Gln
ENST00000683437.1:c.1190G>A	ENSP00000508408.1:p.Arg397Gln
ENST00000683613.1:n.2634G>A
ENST00000684663.1:c.1595G>A	ENSP00000508009.1:p.Arg532Gln
ENST00000324559.9:c.1640G>A MANE Select	ENSP00000315371.9:p.Arg547Gln
ENST00000648804.1:n.1975G>A
ENST00000324559.8:c.1640G>A	ENSP00000315371.8:p.Arg547Gln
NM_001142649.1:c.1637G>A	NP_001136121.1:p.Arg546Gln
NM_213599.2:c.1640G>A , LRG_868t1:c.1640G>A	NP_998764.1:p.Arg547Gln
XM_005252820.2:c.1598G>A	XP_005252877.2:p.Arg533Gln
XM_005252821.2:c.1595G>A	XP_005252878.2:p.Arg532Gln
XM_005252822.3:c.1562G>A	XP_005252879.1:p.Arg521Gln
XM_005252823.3:c.1559G>A	XP_005252880.1:p.Arg520Gln
XM_011519949.1:c.1547G>A	XP_011518251.1:p.Arg516Gln
XM_005252820.3:c.1598G>A	XP_005252877.2:p.Arg533Gln
XM_005252821.3:c.1595G>A	XP_005252878.2:p.Arg532Gln
XM_005252822.4:c.1562G>A	XP_005252879.1:p.Arg521Gln
XM_011519949.2:c.1547G>A	XP_011518251.1:p.Arg516Gln
NM_001142649.2:c.1637G>A	NP_001136121.1:p.Arg546Gln
NM_213599.3:c.1640G>A MANE Select	NP_998764.1:p.Arg547Gln