Canonical Allele Identifier: CA218735506

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22227570C>T , CM000673.2:g.22227570C>T	GRCh38
NC_000011.9:g.22249116C>T , CM000673.1:g.22249116C>T	GRCh37
NC_000011.8:g.22205692C>T	NCBI36
NG_015844.1:g.39395C>T , LRG_868:g.39395C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.632C>T MANE Select	NP_998764.1:p.Ser211Leu
ENST00000324559.9:c.632C>T MANE Select	ENSP00000315371.9:p.Ser211Leu
NM_001142649.1:c.629C>T	NP_001136121.1:p.Ser210Leu
NM_001142649.2:c.629C>T	NP_001136121.1:p.Ser210Leu
NM_213599.2:c.632C>T , LRG_868t1:c.632C>T	NP_998764.1:p.Ser211Leu
ENST00000324559.8:c.632C>T	ENSP00000315371.8:p.Ser211Leu
ENST00000648804.1:n.1197C>T
ENST00000682266.1:c.182C>T	ENSP00000507766.1:p.Ser61Leu
ENST00000682341.1:c.590C>T	ENSP00000508251.1:p.Ser197Leu
ENST00000682530.1:c.*564C>T	ENSP00000506805.1:n.*564C>T
ENST00000682684.1:n.1011C>T
ENST00000683197.1:c.590C>T	ENSP00000507641.1:p.Ser197Leu
ENST00000683411.1:c.182C>T	ENSP00000508397.1:p.Ser61Leu
ENST00000683437.1:c.182C>T	ENSP00000508408.1:p.Ser61Leu
ENST00000683613.1:n.1626C>T
ENST00000683834.1:n.832C>T
ENST00000684663.1:c.587C>T	ENSP00000508009.1:p.Ser196Leu
XM_005252820.2:c.590C>T	XP_005252877.2:p.Ser197Leu
XM_005252820.3:c.590C>T	XP_005252877.2:p.Ser197Leu
XM_005252821.2:c.587C>T	XP_005252878.2:p.Ser196Leu
XM_005252821.3:c.587C>T	XP_005252878.2:p.Ser196Leu
XM_005252822.3:c.554C>T	XP_005252879.1:p.Ser185Leu
XM_005252822.4:c.554C>T	XP_005252879.1:p.Ser185Leu
XM_005252823.3:c.551C>T	XP_005252880.1:p.Ser184Leu
XM_011519949.1:c.539C>T	XP_011518251.1:p.Ser180Leu
XM_011519949.2:c.539C>T	XP_011518251.1:p.Ser180Leu