Canonical Allele Identifier: CA10605075

Gene: ANO5

Linked Data

• ClinVar Variation Id: 285318
• ClinVar RCV Id: RCV000292048
• dbSNP Id: rs886043073
• MyVariant Identifiers: chr11:g.22271784A>T (hg19) ; chr11:g.22250238A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250238A>T , CM000673.2:g.22250238A>T	GRCh38
NC_000011.9:g.22271784A>T , CM000673.1:g.22271784A>T	GRCh37
NC_000011.8:g.22228360A>T	NCBI36
NG_015844.1:g.62063A>T , LRG_868:g.62063A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.200A>T
ENST00000682266.1:c.430A>T	ENSP00000507766.1:p.Asn144Tyr
ENST00000682341.1:c.838A>T	ENSP00000508251.1:p.Asn280Tyr
ENST00000682530.1:c.*812A>T	ENSP00000506805.1:n.*812A>T
ENST00000683197.1:c.838A>T	ENSP00000507641.1:p.Asn280Tyr
ENST00000683411.1:c.430A>T	ENSP00000508397.1:p.Asn144Tyr
ENST00000683437.1:c.430A>T	ENSP00000508408.1:p.Asn144Tyr
ENST00000683613.1:n.1874A>T
ENST00000683834.1:n.1080A>T
ENST00000684663.1:c.835A>T	ENSP00000508009.1:p.Asn279Tyr
ENST00000324559.9:c.880A>T MANE Select	ENSP00000315371.9:p.Asn294Tyr
ENST00000648804.1:n.1215A>T
ENST00000324559.8:c.880A>T	ENSP00000315371.8:p.Asn294Tyr
NM_001142649.1:c.877A>T	NP_001136121.1:p.Asn293Tyr
NM_213599.2:c.880A>T , LRG_868t1:c.880A>T	NP_998764.1:p.Asn294Tyr
XM_005252820.2:c.838A>T	XP_005252877.2:p.Asn280Tyr
XM_005252821.2:c.835A>T	XP_005252878.2:p.Asn279Tyr
XM_005252822.3:c.802A>T	XP_005252879.1:p.Asn268Tyr
XM_005252823.3:c.799A>T	XP_005252880.1:p.Asn267Tyr
XM_011519949.1:c.787A>T	XP_011518251.1:p.Asn263Tyr
XM_005252820.3:c.838A>T	XP_005252877.2:p.Asn280Tyr
XM_005252821.3:c.835A>T	XP_005252878.2:p.Asn279Tyr
XM_005252822.4:c.802A>T	XP_005252879.1:p.Asn268Tyr
XM_011519949.2:c.787A>T	XP_011518251.1:p.Asn263Tyr
NM_001142649.2:c.877A>T	NP_001136121.1:p.Asn293Tyr
NM_213599.3:c.880A>T MANE Select	NP_998764.1:p.Asn294Tyr