Canonical Allele Identifier: CA16043310

Gene: ATRX

Linked Data

• ClinVar Variation Id: 372728
• ClinVar RCV Id: RCV000413472 ; RCV001197192 ; RCV002288984
• dbSNP Id: rs1057517948
• gnomAD v4: X-77574322-C-T
• MyVariant Identifiers: chrX:g.76829787C>T (hg19) ; chrX:g.77574322C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574322C>T , CM000685.2:g.77574322C>T	GRCh38
NC_000023.10:g.76829787C>T , CM000685.1:g.76829787C>T	GRCh37
NC_000023.9:g.76716443C>T	NCBI36
NG_008838.2:g.216900G>A
NG_008838.3:g.216948G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.6254G>A MANE Select	ENSP00000362441.4:p.Arg2085His
ENST00000636152.1:n.89G>A
ENST00000675732.1:c.1352G>A	ENSP00000502598.1:p.Arg451His
ENST00000373344.9:c.6254G>A	ENSP00000362441.4:p.Arg2085His
ENST00000395603.7:c.6140G>A	ENSP00000378967.3:p.Arg2047His
ENST00000480283.5:c.*5882G>A	ENSP00000480196.1:n.*5882G>A
ENST00000623316.1:c.738G>A
ENST00000623706.3:n.3324G>A
NM_000489.4:c.6254G>A	NP_000480.3:p.Arg2085His
NM_138270.3:c.6140G>A	NP_612114.2:p.Arg2047His
XM_005262153.3:c.6251G>A	XP_005262210.2:p.Arg2084His
XM_005262154.3:c.6167G>A	XP_005262211.2:p.Arg2056His
XM_005262155.3:c.6137G>A	XP_005262212.2:p.Arg2046His
XM_005262156.3:c.6089G>A	XP_005262213.2:p.Arg2030His
XM_005262157.3:c.6050G>A	XP_005262214.2:p.Arg2017His
XM_006724666.2:c.6137G>A	XP_006724729.1:p.Arg2046His
XM_006724667.2:c.5975G>A	XP_006724730.1:p.Arg1992His
XR_938400.1:n.6596G>A
NM_000489.5:c.6254G>A	NP_000480.3:p.Arg2085His
XM_005262153.5:c.6251G>A	XP_005262210.2:p.Arg2084His
XM_005262154.5:c.6167G>A	XP_005262211.2:p.Arg2056His
XM_005262155.4:c.6137G>A	XP_005262212.2:p.Arg2046His
XM_005262156.4:c.6089G>A	XP_005262213.2:p.Arg2030His
XM_005262157.5:c.6050G>A	XP_005262214.2:p.Arg2017His
XM_006724666.4:c.6137G>A	XP_006724729.1:p.Arg2046His
XM_006724667.3:c.5975G>A	XP_006724730.1:p.Arg1992His
XM_017029601.2:c.6164G>A	XP_016885090.1:p.Arg2055His
XM_017029602.1:c.6134G>A	XP_016885091.1:p.Arg2045His
XM_017029603.1:c.6086G>A	XP_016885092.1:p.Arg2029His
XM_017029604.2:c.6053G>A	XP_016885093.1:p.Arg2018His
XM_017029605.1:c.6050G>A	XP_016885094.1:p.Arg2017His
XM_017029606.2:c.6023G>A	XP_016885095.1:p.Arg2008His
XM_017029607.2:c.6020G>A	XP_016885096.1:p.Arg2007His
XM_017029608.2:c.5972G>A	XP_016885097.1:p.Arg1991His
XM_017029609.1:c.5936G>A	XP_016885098.1:p.Arg1979His
XM_017029610.1:c.5933G>A	XP_016885099.1:p.Arg1978His
XM_017029611.1:c.5888G>A	XP_016885100.1:p.Arg1963His
XR_001755700.2:n.6553G>A
NM_138270.4:c.6140G>A	NP_612114.2:p.Arg2047His
NM_000489.6:c.6254G>A MANE Select	NP_000480.3:p.Arg2085His
NM_138270.5:c.6140G>A	NP_612114.2:p.Arg2047His