Canonical Allele Identifier: CA473407252

Gene: ANO5

Linked Data

• COSMIC: COSM4471414
• MyVariant Identifiers: chr11:g.22283763C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22262217C>T , CM000673.2:g.22262217C>T	GRCh38
NC_000011.9:g.22283763C>T , CM000673.1:g.22283763C>T	GRCh37
NC_000011.8:g.22240339C>T	NCBI36
NG_015844.1:g.74042C>T , LRG_868:g.74042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.1269C>T	ENSP00000507766.1:p.Phe423=
ENST00000682341.1:c.1677C>T	ENSP00000508251.1:p.Phe559=
ENST00000683197.1:c.1677C>T	ENSP00000507641.1:p.Phe559=
ENST00000683411.1:c.1269C>T	ENSP00000508397.1:p.Phe423=
ENST00000683437.1:c.1269C>T	ENSP00000508408.1:p.Phe423=
ENST00000683613.1:n.2713C>T
ENST00000684663.1:c.1674C>T	ENSP00000508009.1:p.Phe558=
ENST00000324559.9:c.1719C>T MANE Select	ENSP00000315371.9:p.Phe573=
ENST00000648804.1:n.2054C>T
ENST00000324559.8:c.1719C>T	ENSP00000315371.8:p.Phe573=
NM_001142649.1:c.1716C>T	NP_001136121.1:p.Phe572=
NM_213599.2:c.1719C>T , LRG_868t1:c.1719C>T	NP_998764.1:p.Phe573=
XM_005252820.2:c.1677C>T	XP_005252877.2:p.Phe559=
XM_005252821.2:c.1674C>T	XP_005252878.2:p.Phe558=
XM_005252822.3:c.1641C>T	XP_005252879.1:p.Phe547=
XM_005252823.3:c.1638C>T	XP_005252880.1:p.Phe546=
XM_011519949.1:c.1626C>T	XP_011518251.1:p.Phe542=
XM_005252820.3:c.1677C>T	XP_005252877.2:p.Phe559=
XM_005252821.3:c.1674C>T	XP_005252878.2:p.Phe558=
XM_005252822.4:c.1641C>T	XP_005252879.1:p.Phe547=
XM_011519949.2:c.1626C>T	XP_011518251.1:p.Phe542=
NM_001142649.2:c.1716C>T	NP_001136121.1:p.Phe572=
NM_213599.3:c.1719C>T MANE Select	NP_998764.1:p.Phe573=