Canonical Allele Identifier: CA213094

Gene: ANO10

Linked Data

• ClinVar Variation Id: 162017
• ClinVar RCV Id: RCV000149438
• dbSNP Id: rs138000380
• ExAC: 3:43474174 C / T
• gnomAD v2: 3-43474174-C-T
• gnomAD v3: 3-43432682-C-T
• gnomAD v4: 3-43432682-C-T
• MyVariant Identifiers: chr3:g.43474174C>T (hg19) ; chr3:g.43432682C>T (hg38)
• PubMed: PMID:25182700

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43432682C>T , CM000665.2:g.43432682C>T	GRCh38
NC_000003.11:g.43474174C>T , CM000665.1:g.43474174C>T	GRCh37
NC_000003.10:g.43449178C>T	NCBI36
NG_028216.1:g.194387G>A
NG_028216.2:g.263913G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000292246.8:c.1843G>A MANE Select	ENSP00000292246.3:p.Asp615Asn
ENST00000292246.7:c.1843G>A	ENSP00000292246.3:p.Asp615Asn
ENST00000350459.8:c.1273G>A	ENSP00000327767.4:p.Asp425Asn
ENST00000396091.7:c.1645G>A	ENSP00000379398.3:p.Asp549Asn
ENST00000414522.6:c.1798-59835G>A	ENSP00000396990.2:n.1798-59835G>A
ENST00000448045.1:c.426G>A
ENST00000451430.6:c.1510G>A	ENSP00000394119.2:p.Asp504Asn
NM_001204831.1:c.1798-59835G>A	NP_001191760.1:n.1798-59835G>A
NM_001204832.1:c.1645G>A	NP_001191761.1:p.Asp549Asn
NM_001204833.1:c.1510G>A	NP_001191762.1:p.Asp504Asn
NM_001204834.1:c.1273G>A	NP_001191763.1:p.Asp425Asn
NM_018075.3:c.1843G>A	NP_060545.3:p.Asp615Asn
XM_011533887.1:c.1915-65708G>A	XP_011532189.1:n.1915-65708G>A
NM_001204831.2:c.1798-59835G>A	NP_001191760.1:n.1798-59835G>A
NM_001204832.2:c.1645G>A	NP_001191761.1:p.Asp549Asn
NM_001204833.2:c.1510G>A	NP_001191762.1:p.Asp504Asn
NM_001204834.2:c.1273G>A	NP_001191763.1:p.Asp425Asn
NM_001346463.1:c.1915-65708G>A	NP_001333392.1:n.1915-65708G>A
NM_001346464.1:c.1960G>A	NP_001333393.1:p.Asp654Asn
NM_001346465.1:c.1798-65708G>A	NP_001333394.1:n.1798-65708G>A
NM_001346466.1:c.1645G>A	NP_001333395.1:p.Asp549Asn
NM_001346467.1:c.1960G>A	NP_001333396.1:p.Asp654Asn
NM_001346468.1:c.1843G>A	NP_001333397.1:p.Asp615Asn
NM_001346469.1:c.1645G>A	NP_001333398.1:p.Asp549Asn
NM_018075.4:c.1843G>A	NP_060545.3:p.Asp615Asn
XM_011533885.3:c.*27G>A	XP_011532187.2:n.*27G>A
XM_017006717.2:c.1960G>A	XP_016862206.1:p.Asp654Asn
XM_017006718.1:c.*27G>A	XP_016862207.1:n.*27G>A
XM_017006719.2:c.1762G>A	XP_016862208.1:p.Asp588Asn
XM_024453617.1:c.1600-65708G>A	XP_024309385.1:n.1600-65708G>A
XR_001740190.2:n.2054G>A
NM_018075.5:c.1843G>A MANE Select	NP_060545.3:p.Asp615Asn
NM_001204831.3:c.1798-59835G>A	NP_001191760.1:n.1798-59835G>A
NM_001204832.3:c.1645G>A	NP_001191761.1:p.Asp549Asn
NM_001204833.3:c.1510G>A	NP_001191762.1:p.Asp504Asn
NM_001204834.3:c.1273G>A	NP_001191763.1:p.Asp425Asn
NM_001346463.2:c.1915-65708G>A	NP_001333392.1:n.1915-65708G>A
NM_001346464.2:c.1960G>A	NP_001333393.1:p.Asp654Asn
NM_001346465.2:c.1798-65708G>A	NP_001333394.1:n.1798-65708G>A
NM_001346466.2:c.1645G>A	NP_001333395.1:p.Asp549Asn
NM_001346467.2:c.1960G>A	NP_001333396.1:p.Asp654Asn
NM_001346468.2:c.1843G>A	NP_001333397.1:p.Asp615Asn
NM_001346469.2:c.1645G>A	NP_001333398.1:p.Asp549Asn