Canonical Allele Identifier: CA379920649

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22271790T>A (hg19) ; chr11:g.22250244T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250244T>A , CM000673.2:g.22250244T>A	GRCh38
NC_000011.9:g.22271790T>A , CM000673.1:g.22271790T>A	GRCh37
NC_000011.8:g.22228366T>A	NCBI36
NG_015844.1:g.62069T>A , LRG_868:g.62069T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.206T>A
ENST00000682266.1:c.436T>A	ENSP00000507766.1:p.Tyr146Asn
ENST00000682341.1:c.844T>A	ENSP00000508251.1:p.Tyr282Asn
ENST00000682530.1:c.*818T>A	ENSP00000506805.1:n.*818T>A
ENST00000683197.1:c.844T>A	ENSP00000507641.1:p.Tyr282Asn
ENST00000683411.1:c.436T>A	ENSP00000508397.1:p.Tyr146Asn
ENST00000683437.1:c.436T>A	ENSP00000508408.1:p.Tyr146Asn
ENST00000683613.1:n.1880T>A
ENST00000683834.1:n.1086T>A
ENST00000684663.1:c.841T>A	ENSP00000508009.1:p.Tyr281Asn
ENST00000324559.9:c.886T>A MANE Select	ENSP00000315371.9:p.Tyr296Asn
ENST00000648804.1:n.1221T>A
ENST00000324559.8:c.886T>A	ENSP00000315371.8:p.Tyr296Asn
NM_001142649.1:c.883T>A	NP_001136121.1:p.Tyr295Asn
NM_213599.2:c.886T>A , LRG_868t1:c.886T>A	NP_998764.1:p.Tyr296Asn
XM_005252820.2:c.844T>A	XP_005252877.2:p.Tyr282Asn
XM_005252821.2:c.841T>A	XP_005252878.2:p.Tyr281Asn
XM_005252822.3:c.808T>A	XP_005252879.1:p.Tyr270Asn
XM_005252823.3:c.805T>A	XP_005252880.1:p.Tyr269Asn
XM_011519949.1:c.793T>A	XP_011518251.1:p.Tyr265Asn
XM_005252820.3:c.844T>A	XP_005252877.2:p.Tyr282Asn
XM_005252821.3:c.841T>A	XP_005252878.2:p.Tyr281Asn
XM_005252822.4:c.808T>A	XP_005252879.1:p.Tyr270Asn
XM_011519949.2:c.793T>A	XP_011518251.1:p.Tyr265Asn
NM_001142649.2:c.883T>A	NP_001136121.1:p.Tyr295Asn
NM_213599.3:c.886T>A MANE Select	NP_998764.1:p.Tyr296Asn