Canonical Allele Identifier: CA3066779586
Community Standard Title: NM_000489.6(ATRX):c.2554G= (p.Asp852=)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77682702C= , CM000685.2:g.77682702C= GRCh38
NC_000023.10:g.76938194C= , CM000685.1:g.76938194C= GRCh37
NC_000023.9:g.76824850C= NCBI36
NG_008838.2:g.108520G=
NG_008838.3:g.108568G=

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.2554G= MANE Select NP_000480.3:p.Asp852=
ENST00000373344.11:c.2554G= MANE Select ENSP00000362441.4:p.Asp852=
NM_000489.4:c.2554G= NP_000480.3:p.Asp852=
NM_000489.5:c.2554G= NP_000480.3:p.Asp852=
NM_138270.3:c.2440G= NP_612114.2:p.Asp814=
NM_138270.4:c.2440G= NP_612114.2:p.Asp814=
NM_138270.5:c.2440G= NP_612114.2:p.Asp814=
ENST00000373344.9:c.2554G= ENSP00000362441.4:p.Asp852=
ENST00000395603.7:c.2440G= ENSP00000378967.3:p.Asp814=
ENST00000480283.5:c.*2182G= ENSP00000480196.1:n.*2182G=
ENST00000624032.3:c.2467G= ENSP00000485253.1:p.Asp823=
ENST00000624166.3:c.2350G= ENSP00000485103.1:p.Asp784=
XM_005262153.3:c.2551G= XP_005262210.2:p.Asp851=
XM_005262153.5:c.2551G= XP_005262210.2:p.Asp851=
XM_005262154.3:c.2467G= XP_005262211.2:p.Asp823=
XM_005262154.5:c.2467G= XP_005262211.2:p.Asp823=
XM_005262155.3:c.2437G= XP_005262212.2:p.Asp813=
XM_005262155.4:c.2437G= XP_005262212.2:p.Asp813=
XM_005262156.3:c.2389G= XP_005262213.2:p.Asp797=
XM_005262156.4:c.2389G= XP_005262213.2:p.Asp797=
XM_005262157.3:c.2350G= XP_005262214.2:p.Asp784=
XM_005262157.5:c.2350G= XP_005262214.2:p.Asp784=
XM_006724666.2:c.2437G= XP_006724729.1:p.Asp813=
XM_006724666.4:c.2437G= XP_006724729.1:p.Asp813=
XM_006724667.2:c.2275G= XP_006724730.1:p.Asp759=
XM_006724667.3:c.2275G= XP_006724730.1:p.Asp759=
XM_006724668.2:c.2554G= XP_006724731.1:p.Asp852=
XM_006724668.3:c.2554G= XP_006724731.1:p.Asp852=
XM_017029601.2:c.2464G= XP_016885090.1:p.Asp822=
XM_017029602.1:c.2434G= XP_016885091.1:p.Asp812=
XM_017029603.1:c.2386G= XP_016885092.1:p.Asp796=
XM_017029604.2:c.2353G= XP_016885093.1:p.Asp785=
XM_017029605.1:c.2350G= XP_016885094.1:p.Asp784=
XM_017029606.2:c.2323G= XP_016885095.1:p.Asp775=
XM_017029607.2:c.2320G= XP_016885096.1:p.Asp774=
XM_017029608.2:c.2272G= XP_016885097.1:p.Asp758=
XM_017029609.1:c.2236G= XP_016885098.1:p.Asp746=
XM_017029610.1:c.2233G= XP_016885099.1:p.Asp745=
XM_017029611.1:c.2188G= XP_016885100.1:p.Asp730=
XR_001755700.2:n.2779G=
XR_938400.1:n.2822G=