Canonical Allele Identifier: CA331560027

Gene: ATRX

Linked Data

• dbSNP Id: rs782487884
• gnomAD v3: X-77508299-A-T
• gnomAD v4: X-77508299-A-T
• MyVariant Identifiers: chrX:g.76763777A>T (hg19) ; chrX:g.77508299A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508299A>T , CM000685.2:g.77508299A>T	GRCh38
NC_000023.10:g.76763777A>T , CM000685.1:g.76763777A>T	GRCh37
NC_000023.9:g.76650433A>T	NCBI36
NG_008838.2:g.282923T>A
NG_008838.3:g.282971T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.*52T>A MANE Select	ENSP00000362441.4:n.*52T>A
ENST00000675732.1:c.*52T>A	ENSP00000502598.1:n.*52T>A
ENST00000373344.9:c.*52T>A	ENSP00000362441.4:n.*52T>A
ENST00000395603.7:c.*52T>A	ENSP00000378967.3:n.*52T>A
ENST00000480283.5:c.*7159T>A	ENSP00000480196.1:n.*7159T>A
ENST00000623706.3:n.5851T>A
NM_000489.4:c.*52T>A	NP_000480.3:n.*52T>A
NM_138270.3:c.*52T>A	NP_612114.2:n.*52T>A
XM_005262153.3:c.*52T>A	XP_005262210.2:n.*52T>A
XM_005262154.3:c.*52T>A	XP_005262211.2:n.*52T>A
XM_005262155.3:c.*52T>A	XP_005262212.2:n.*52T>A
XM_005262156.3:c.*52T>A	XP_005262213.2:n.*52T>A
XM_005262157.3:c.*52T>A	XP_005262214.2:n.*52T>A
XM_006724666.2:c.*52T>A	XP_006724729.1:n.*52T>A
XM_006724667.2:c.*52T>A	XP_006724730.1:n.*52T>A
XR_938400.1:n.9123T>A
NM_000489.5:c.*52T>A	NP_000480.3:n.*52T>A
XM_005262153.5:c.*52T>A	XP_005262210.2:n.*52T>A
XM_005262154.5:c.*52T>A	XP_005262211.2:n.*52T>A
XM_005262155.4:c.*52T>A	XP_005262212.2:n.*52T>A
XM_005262156.4:c.*52T>A	XP_005262213.2:n.*52T>A
XM_005262157.5:c.*52T>A	XP_005262214.2:n.*52T>A
XM_006724666.4:c.*52T>A	XP_006724729.1:n.*52T>A
XM_006724667.3:c.*52T>A	XP_006724730.1:n.*52T>A
XM_017029601.2:c.*52T>A	XP_016885090.1:n.*52T>A
XM_017029602.1:c.*52T>A	XP_016885091.1:n.*52T>A
XM_017029603.1:c.*52T>A	XP_016885092.1:n.*52T>A
XM_017029604.2:c.*52T>A	XP_016885093.1:n.*52T>A
XM_017029605.1:c.*52T>A	XP_016885094.1:n.*52T>A
XM_017029606.2:c.*52T>A	XP_016885095.1:n.*52T>A
XM_017029607.2:c.*52T>A	XP_016885096.1:n.*52T>A
XM_017029608.2:c.*52T>A	XP_016885097.1:n.*52T>A
XM_017029609.1:c.*52T>A	XP_016885098.1:n.*52T>A
XM_017029610.1:c.*52T>A	XP_016885099.1:n.*52T>A
XM_017029611.1:c.*52T>A	XP_016885100.1:n.*52T>A
XR_001755700.2:n.7830T>A
NM_138270.4:c.*52T>A	NP_612114.2:n.*52T>A
NM_000489.6:c.*52T>A MANE Select	NP_000480.3:n.*52T>A
NM_138270.5:c.*52T>A	NP_612114.2:n.*52T>A