Canonical Allele Identifier: CA413706471

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77681807T>C , CM000685.2:g.77681807T>C	GRCh38
NC_000023.10:g.76937299T>C , CM000685.1:g.76937299T>C	GRCh37
NC_000023.9:g.76823955T>C	NCBI36
NG_008838.2:g.109415A>G
NG_008838.3:g.109463A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3449A>G MANE Select	NP_000480.3:p.Gln1150Arg
ENST00000373344.11:c.3449A>G MANE Select	ENSP00000362441.4:p.Gln1150Arg
NM_000489.4:c.3449A>G	NP_000480.3:p.Gln1150Arg
NM_000489.5:c.3449A>G	NP_000480.3:p.Gln1150Arg
NM_138270.3:c.3335A>G	NP_612114.2:p.Gln1112Arg
NM_138270.4:c.3335A>G	NP_612114.2:p.Gln1112Arg
NM_138270.5:c.3335A>G	NP_612114.2:p.Gln1112Arg
ENST00000373344.9:c.3449A>G	ENSP00000362441.4:p.Gln1150Arg
ENST00000395603.7:c.3335A>G	ENSP00000378967.3:p.Gln1112Arg
ENST00000480283.5:c.*3077A>G	ENSP00000480196.1:n.*3077A>G
ENST00000493470.2:c.335A>G	ENSP00000485408.1:p.Gln112Arg
ENST00000624166.3:c.3245A>G	ENSP00000485103.1:p.Gln1082Arg
XM_005262153.3:c.3446A>G	XP_005262210.2:p.Gln1149Arg
XM_005262153.5:c.3446A>G	XP_005262210.2:p.Gln1149Arg
XM_005262154.3:c.3362A>G	XP_005262211.2:p.Gln1121Arg
XM_005262154.5:c.3362A>G	XP_005262211.2:p.Gln1121Arg
XM_005262155.3:c.3332A>G	XP_005262212.2:p.Gln1111Arg
XM_005262155.4:c.3332A>G	XP_005262212.2:p.Gln1111Arg
XM_005262156.3:c.3284A>G	XP_005262213.2:p.Gln1095Arg
XM_005262156.4:c.3284A>G	XP_005262213.2:p.Gln1095Arg
XM_005262157.3:c.3245A>G	XP_005262214.2:p.Gln1082Arg
XM_005262157.5:c.3245A>G	XP_005262214.2:p.Gln1082Arg
XM_006724666.2:c.3332A>G	XP_006724729.1:p.Gln1111Arg
XM_006724666.4:c.3332A>G	XP_006724729.1:p.Gln1111Arg
XM_006724667.2:c.3170A>G	XP_006724730.1:p.Gln1057Arg
XM_006724667.3:c.3170A>G	XP_006724730.1:p.Gln1057Arg
XM_006724668.2:c.3449A>G	XP_006724731.1:p.Gln1150Arg
XM_006724668.3:c.3449A>G	XP_006724731.1:p.Gln1150Arg
XM_017029601.2:c.3359A>G	XP_016885090.1:p.Gln1120Arg
XM_017029602.1:c.3329A>G	XP_016885091.1:p.Gln1110Arg
XM_017029603.1:c.3281A>G	XP_016885092.1:p.Gln1094Arg
XM_017029604.2:c.3248A>G	XP_016885093.1:p.Gln1083Arg
XM_017029605.1:c.3245A>G	XP_016885094.1:p.Gln1082Arg
XM_017029606.2:c.3218A>G	XP_016885095.1:p.Gln1073Arg
XM_017029607.2:c.3215A>G	XP_016885096.1:p.Gln1072Arg
XM_017029608.2:c.3167A>G	XP_016885097.1:p.Gln1056Arg
XM_017029609.1:c.3131A>G	XP_016885098.1:p.Gln1044Arg
XM_017029610.1:c.3128A>G	XP_016885099.1:p.Gln1043Arg
XM_017029611.1:c.3083A>G	XP_016885100.1:p.Gln1028Arg
XR_001755700.2:n.3674A>G
XR_938400.1:n.3717A>G