Canonical Allele Identifier: CA379924586

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22297681A>T (hg19) ; chr11:g.22276135A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22276135A>T , CM000673.2:g.22276135A>T	GRCh38
NC_000011.9:g.22297681A>T , CM000673.1:g.22297681A>T	GRCh37
NC_000011.8:g.22254257A>T	NCBI36
NG_015844.1:g.87960A>T , LRG_868:g.87960A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.473A>T
ENST00000682266.1:c.2006A>T	ENSP00000507766.1:p.Tyr669Phe
ENST00000682341.1:c.2414A>T	ENSP00000508251.1:p.Tyr805Phe
ENST00000683197.1:c.2372+1388A>T	ENSP00000507641.1:n.2372+1388A>T
ENST00000683411.1:c.2006A>T	ENSP00000508397.1:p.Tyr669Phe
ENST00000683437.1:c.2006A>T	ENSP00000508408.1:p.Tyr669Phe
ENST00000683613.1:n.3450A>T
ENST00000684663.1:c.2411A>T	ENSP00000508009.1:p.Tyr804Phe
ENST00000324559.9:c.2456A>T MANE Select	ENSP00000315371.9:p.Tyr819Phe
ENST00000648804.1:n.2791A>T
ENST00000324559.8:c.2456A>T	ENSP00000315371.8:p.Tyr819Phe
ENST00000532043.1:n.473A>T
NM_001142649.1:c.2453A>T	NP_001136121.1:p.Tyr818Phe
NM_213599.2:c.2456A>T , LRG_868t1:c.2456A>T	NP_998764.1:p.Tyr819Phe
XM_005252820.2:c.2414A>T	XP_005252877.2:p.Tyr805Phe
XM_005252821.2:c.2411A>T	XP_005252878.2:p.Tyr804Phe
XM_005252822.3:c.2378A>T	XP_005252879.1:p.Tyr793Phe
XM_005252823.3:c.2375A>T	XP_005252880.1:p.Tyr792Phe
XM_011519949.1:c.2363A>T	XP_011518251.1:p.Tyr788Phe
XM_005252820.3:c.2414A>T	XP_005252877.2:p.Tyr805Phe
XM_005252821.3:c.2411A>T	XP_005252878.2:p.Tyr804Phe
XM_005252822.4:c.2378A>T	XP_005252879.1:p.Tyr793Phe
XM_011519949.2:c.2363A>T	XP_011518251.1:p.Tyr788Phe
NM_001142649.2:c.2453A>T	NP_001136121.1:p.Tyr818Phe
NM_213599.3:c.2456A>T MANE Select	NP_998764.1:p.Tyr819Phe