Canonical Allele Identifier: CA379920644

Gene: ANO5

Linked Data

• dbSNP Id: rs1179132597
• gnomAD v3: 11-22250242-A-T
• gnomAD v4: 11-22250242-A-T
• MyVariant Identifiers: chr11:g.22271788A>T (hg19) ; chr11:g.22250242A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250242A>T , CM000673.2:g.22250242A>T	GRCh38
NC_000011.9:g.22271788A>T , CM000673.1:g.22271788A>T	GRCh37
NC_000011.8:g.22228364A>T	NCBI36
NG_015844.1:g.62067A>T , LRG_868:g.62067A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.204A>T
ENST00000682266.1:c.434A>T	ENSP00000507766.1:p.Tyr145Phe
ENST00000682341.1:c.842A>T	ENSP00000508251.1:p.Tyr281Phe
ENST00000682530.1:c.*816A>T	ENSP00000506805.1:n.*816A>T
ENST00000683197.1:c.842A>T	ENSP00000507641.1:p.Tyr281Phe
ENST00000683411.1:c.434A>T	ENSP00000508397.1:p.Tyr145Phe
ENST00000683437.1:c.434A>T	ENSP00000508408.1:p.Tyr145Phe
ENST00000683613.1:n.1878A>T
ENST00000683834.1:n.1084A>T
ENST00000684663.1:c.839A>T	ENSP00000508009.1:p.Tyr280Phe
ENST00000324559.9:c.884A>T MANE Select	ENSP00000315371.9:p.Tyr295Phe
ENST00000648804.1:n.1219A>T
ENST00000324559.8:c.884A>T	ENSP00000315371.8:p.Tyr295Phe
NM_001142649.1:c.881A>T	NP_001136121.1:p.Tyr294Phe
NM_213599.2:c.884A>T , LRG_868t1:c.884A>T	NP_998764.1:p.Tyr295Phe
XM_005252820.2:c.842A>T	XP_005252877.2:p.Tyr281Phe
XM_005252821.2:c.839A>T	XP_005252878.2:p.Tyr280Phe
XM_005252822.3:c.806A>T	XP_005252879.1:p.Tyr269Phe
XM_005252823.3:c.803A>T	XP_005252880.1:p.Tyr268Phe
XM_011519949.1:c.791A>T	XP_011518251.1:p.Tyr264Phe
XM_005252820.3:c.842A>T	XP_005252877.2:p.Tyr281Phe
XM_005252821.3:c.839A>T	XP_005252878.2:p.Tyr280Phe
XM_005252822.4:c.806A>T	XP_005252879.1:p.Tyr269Phe
XM_011519949.2:c.791A>T	XP_011518251.1:p.Tyr264Phe
NM_001142649.2:c.881A>T	NP_001136121.1:p.Tyr294Phe
NM_213599.3:c.884A>T MANE Select	NP_998764.1:p.Tyr295Phe