Canonical Allele Identifier: CA413722500

Gene: ATRX

Linked Data

• dbSNP Id: rs2148656496
• MyVariant Identifiers: chrX:g.76944341T>A (hg19) ; chrX:g.77688848T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77688848T>A , CM000685.2:g.77688848T>A	GRCh38
NC_000023.10:g.76944341T>A , CM000685.1:g.76944341T>A	GRCh37
NC_000023.9:g.76830997T>A	NCBI36
NG_008838.2:g.102374A>T
NG_008838.3:g.102422A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.564A>T MANE Select	ENSP00000362441.4:p.Arg188Ser
ENST00000373344.9:c.564A>T	ENSP00000362441.4:p.Arg188Ser
ENST00000395603.7:c.450A>T	ENSP00000378967.3:p.Arg150Ser
ENST00000480283.5:c.*192A>T	ENSP00000480196.1:n.*192A>T
ENST00000623321.3:c.399A>T	ENSP00000485127.1:p.Arg133Ser
ENST00000624032.3:c.564A>T	ENSP00000485253.1:p.Arg188Ser
ENST00000624166.3:c.447A>T	ENSP00000485103.1:p.Arg149Ser
ENST00000624668.3:c.285A>T	ENSP00000485100.1:p.Arg95Ser
ENST00000625063.3:c.379A>T
NM_000489.4:c.564A>T	NP_000480.3:p.Arg188Ser
NM_138270.3:c.450A>T	NP_612114.2:p.Arg150Ser
XM_005262153.3:c.561A>T	XP_005262210.2:p.Arg187Ser
XM_005262154.3:c.564A>T	XP_005262211.2:p.Arg188Ser
XM_005262155.3:c.447A>T	XP_005262212.2:p.Arg149Ser
XM_005262156.3:c.399A>T	XP_005262213.2:p.Arg133Ser
XM_005262157.3:c.447A>T	XP_005262214.2:p.Arg149Ser
XM_006724666.2:c.447A>T	XP_006724729.1:p.Arg149Ser
XM_006724667.2:c.285A>T	XP_006724730.1:p.Arg95Ser
XM_006724668.2:c.564A>T	XP_006724731.1:p.Arg188Ser
XR_938400.1:n.832A>T
NM_000489.5:c.564A>T	NP_000480.3:p.Arg188Ser
XM_005262153.5:c.561A>T	XP_005262210.2:p.Arg187Ser
XM_005262154.5:c.564A>T	XP_005262211.2:p.Arg188Ser
XM_005262155.4:c.447A>T	XP_005262212.2:p.Arg149Ser
XM_005262156.4:c.399A>T	XP_005262213.2:p.Arg133Ser
XM_005262157.5:c.447A>T	XP_005262214.2:p.Arg149Ser
XM_006724666.4:c.447A>T	XP_006724729.1:p.Arg149Ser
XM_006724667.3:c.285A>T	XP_006724730.1:p.Arg95Ser
XM_006724668.3:c.564A>T	XP_006724731.1:p.Arg188Ser
XM_017029601.2:c.561A>T	XP_016885090.1:p.Arg187Ser
XM_017029602.1:c.444A>T	XP_016885091.1:p.Arg148Ser
XM_017029603.1:c.396A>T	XP_016885092.1:p.Arg132Ser
XM_017029604.2:c.450A>T	XP_016885093.1:p.Arg150Ser
XM_017029605.1:c.447A>T	XP_016885094.1:p.Arg149Ser
XM_017029606.2:c.333A>T	XP_016885095.1:p.Arg111Ser
XM_017029607.2:c.330A>T	XP_016885096.1:p.Arg110Ser
XM_017029608.2:c.282A>T	XP_016885097.1:p.Arg94Ser
XM_017029609.1:c.333A>T	XP_016885098.1:p.Arg111Ser
XM_017029610.1:c.330A>T	XP_016885099.1:p.Arg110Ser
XM_017029611.1:c.285A>T	XP_016885100.1:p.Arg95Ser
XR_001755700.2:n.789A>T
NM_138270.4:c.450A>T	NP_612114.2:p.Arg150Ser
NM_000489.6:c.564A>T MANE Select	NP_000480.3:p.Arg188Ser
NM_138270.5:c.450A>T	NP_612114.2:p.Arg150Ser