Canonical Allele Identifier: CA413707396

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682060T>C , CM000685.2:g.77682060T>C	GRCh38
NC_000023.10:g.76937552T>C , CM000685.1:g.76937552T>C	GRCh37
NC_000023.9:g.76824208T>C	NCBI36
NG_008838.2:g.109162A>G
NG_008838.3:g.109210A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3196A>G MANE Select	NP_000480.3:p.Lys1066Glu
ENST00000373344.11:c.3196A>G MANE Select	ENSP00000362441.4:p.Lys1066Glu
NM_000489.4:c.3196A>G	NP_000480.3:p.Lys1066Glu
NM_000489.5:c.3196A>G	NP_000480.3:p.Lys1066Glu
NM_138270.3:c.3082A>G	NP_612114.2:p.Lys1028Glu
NM_138270.4:c.3082A>G	NP_612114.2:p.Lys1028Glu
NM_138270.5:c.3082A>G	NP_612114.2:p.Lys1028Glu
ENST00000373344.9:c.3196A>G	ENSP00000362441.4:p.Lys1066Glu
ENST00000395603.7:c.3082A>G	ENSP00000378967.3:p.Lys1028Glu
ENST00000480283.5:c.*2824A>G	ENSP00000480196.1:n.*2824A>G
ENST00000493470.2:c.82A>G	ENSP00000485408.1:p.Lys28Glu
ENST00000624166.3:c.2992A>G	ENSP00000485103.1:p.Lys998Glu
XM_005262153.3:c.3193A>G	XP_005262210.2:p.Lys1065Glu
XM_005262153.5:c.3193A>G	XP_005262210.2:p.Lys1065Glu
XM_005262154.3:c.3109A>G	XP_005262211.2:p.Lys1037Glu
XM_005262154.5:c.3109A>G	XP_005262211.2:p.Lys1037Glu
XM_005262155.3:c.3079A>G	XP_005262212.2:p.Lys1027Glu
XM_005262155.4:c.3079A>G	XP_005262212.2:p.Lys1027Glu
XM_005262156.3:c.3031A>G	XP_005262213.2:p.Lys1011Glu
XM_005262156.4:c.3031A>G	XP_005262213.2:p.Lys1011Glu
XM_005262157.3:c.2992A>G	XP_005262214.2:p.Lys998Glu
XM_005262157.5:c.2992A>G	XP_005262214.2:p.Lys998Glu
XM_006724666.2:c.3079A>G	XP_006724729.1:p.Lys1027Glu
XM_006724666.4:c.3079A>G	XP_006724729.1:p.Lys1027Glu
XM_006724667.2:c.2917A>G	XP_006724730.1:p.Lys973Glu
XM_006724667.3:c.2917A>G	XP_006724730.1:p.Lys973Glu
XM_006724668.2:c.3196A>G	XP_006724731.1:p.Lys1066Glu
XM_006724668.3:c.3196A>G	XP_006724731.1:p.Lys1066Glu
XM_017029601.2:c.3106A>G	XP_016885090.1:p.Lys1036Glu
XM_017029602.1:c.3076A>G	XP_016885091.1:p.Lys1026Glu
XM_017029603.1:c.3028A>G	XP_016885092.1:p.Lys1010Glu
XM_017029604.2:c.2995A>G	XP_016885093.1:p.Lys999Glu
XM_017029605.1:c.2992A>G	XP_016885094.1:p.Lys998Glu
XM_017029606.2:c.2965A>G	XP_016885095.1:p.Lys989Glu
XM_017029607.2:c.2962A>G	XP_016885096.1:p.Lys988Glu
XM_017029608.2:c.2914A>G	XP_016885097.1:p.Lys972Glu
XM_017029609.1:c.2878A>G	XP_016885098.1:p.Lys960Glu
XM_017029610.1:c.2875A>G	XP_016885099.1:p.Lys959Glu
XM_017029611.1:c.2830A>G	XP_016885100.1:p.Lys944Glu
XR_001755700.2:n.3421A>G
XR_938400.1:n.3464A>G