Canonical Allele Identifier: CA232785

Gene: ANO5

Linked Data

• ClinVar Variation Id: 140553
• ClinVar RCV Id: RCV000128774 ; RCV000405473 ; RCV001814063 ; RCV002288618 ; RCV002464119 ; RCV002498636
• dbSNP Id: rs137854526
• ExAC: 11:22283777 T / C
• gnomAD v2: 11-22283777-T-C
• gnomAD v3: 11-22262231-T-C
• gnomAD v4: 11-22262231-T-C
• MyVariant Identifiers: chr11:g.22283777T>C (hg19) ; chr11:g.22262231T>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22262231T>C , CM000673.2:g.22262231T>C	GRCh38
NC_000011.9:g.22283777T>C , CM000673.1:g.22283777T>C	GRCh37
NC_000011.8:g.22240353T>C	NCBI36
NG_015844.1:g.74056T>C , LRG_868:g.74056T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.1283T>C	ENSP00000507766.1:p.Phe428Ser
ENST00000682341.1:c.1691T>C	ENSP00000508251.1:p.Phe564Ser
ENST00000683197.1:c.1691T>C	ENSP00000507641.1:p.Phe564Ser
ENST00000683411.1:c.1283T>C	ENSP00000508397.1:p.Phe428Ser
ENST00000683437.1:c.1283T>C	ENSP00000508408.1:p.Phe428Ser
ENST00000683613.1:n.2727T>C
ENST00000684663.1:c.1688T>C	ENSP00000508009.1:p.Phe563Ser
ENST00000324559.9:c.1733T>C MANE Select	ENSP00000315371.9:p.Phe578Ser
ENST00000648804.1:n.2068T>C
ENST00000324559.8:c.1733T>C	ENSP00000315371.8:p.Phe578Ser
NM_001142649.1:c.1730T>C	NP_001136121.1:p.Phe577Ser
NM_213599.2:c.1733T>C , LRG_868t1:c.1733T>C	NP_998764.1:p.Phe578Ser
XM_005252820.2:c.1691T>C	XP_005252877.2:p.Phe564Ser
XM_005252821.2:c.1688T>C	XP_005252878.2:p.Phe563Ser
XM_005252822.3:c.1655T>C	XP_005252879.1:p.Phe552Ser
XM_005252823.3:c.1652T>C	XP_005252880.1:p.Phe551Ser
XM_011519949.1:c.1640T>C	XP_011518251.1:p.Phe547Ser
XM_005252820.3:c.1691T>C	XP_005252877.2:p.Phe564Ser
XM_005252821.3:c.1688T>C	XP_005252878.2:p.Phe563Ser
XM_005252822.4:c.1655T>C	XP_005252879.1:p.Phe552Ser
XM_011519949.2:c.1640T>C	XP_011518251.1:p.Phe547Ser
NM_001142649.2:c.1730T>C	NP_001136121.1:p.Phe577Ser
NM_213599.3:c.1733T>C MANE Select	NP_998764.1:p.Phe578Ser