Canonical Allele Identifier: CA413708814

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907803T>G (hg19) ; chrX:g.77652313T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652313T>G , CM000685.2:g.77652313T>G	GRCh38
NC_000023.10:g.76907803T>G , CM000685.1:g.76907803T>G	GRCh37
NC_000023.9:g.76794459T>G	NCBI36
NG_008838.2:g.138909A>C
NG_008838.3:g.138957A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4358A>C MANE Select	ENSP00000362441.4:p.Glu1453Ala
ENST00000373344.9:c.4358A>C	ENSP00000362441.4:p.Glu1453Ala
ENST00000395603.7:c.4244A>C	ENSP00000378967.3:p.Glu1415Ala
ENST00000480283.5:c.*3986A>C	ENSP00000480196.1:n.*3986A>C
NM_000489.4:c.4358A>C	NP_000480.3:p.Glu1453Ala
NM_138270.3:c.4244A>C	NP_612114.2:p.Glu1415Ala
XM_005262153.3:c.4355A>C	XP_005262210.2:p.Glu1452Ala
XM_005262154.3:c.4271A>C	XP_005262211.2:p.Glu1424Ala
XM_005262155.3:c.4241A>C	XP_005262212.2:p.Glu1414Ala
XM_005262156.3:c.4193A>C	XP_005262213.2:p.Glu1398Ala
XM_005262157.3:c.4154A>C	XP_005262214.2:p.Glu1385Ala
XM_006724666.2:c.4241A>C	XP_006724729.1:p.Glu1414Ala
XM_006724667.2:c.4079A>C	XP_006724730.1:p.Glu1360Ala
XM_006724668.2:c.4358A>C	XP_006724731.1:p.Glu1453Ala
XR_938400.1:n.4626A>C
NM_000489.5:c.4358A>C	NP_000480.3:p.Glu1453Ala
XM_005262153.5:c.4355A>C	XP_005262210.2:p.Glu1452Ala
XM_005262154.5:c.4271A>C	XP_005262211.2:p.Glu1424Ala
XM_005262155.4:c.4241A>C	XP_005262212.2:p.Glu1414Ala
XM_005262156.4:c.4193A>C	XP_005262213.2:p.Glu1398Ala
XM_005262157.5:c.4154A>C	XP_005262214.2:p.Glu1385Ala
XM_006724666.4:c.4241A>C	XP_006724729.1:p.Glu1414Ala
XM_006724667.3:c.4079A>C	XP_006724730.1:p.Glu1360Ala
XM_006724668.3:c.4358A>C	XP_006724731.1:p.Glu1453Ala
XM_017029601.2:c.4268A>C	XP_016885090.1:p.Glu1423Ala
XM_017029602.1:c.4238A>C	XP_016885091.1:p.Glu1413Ala
XM_017029603.1:c.4190A>C	XP_016885092.1:p.Glu1397Ala
XM_017029604.2:c.4157A>C	XP_016885093.1:p.Glu1386Ala
XM_017029605.1:c.4154A>C	XP_016885094.1:p.Glu1385Ala
XM_017029606.2:c.4127A>C	XP_016885095.1:p.Glu1376Ala
XM_017029607.2:c.4124A>C	XP_016885096.1:p.Glu1375Ala
XM_017029608.2:c.4076A>C	XP_016885097.1:p.Glu1359Ala
XM_017029609.1:c.4040A>C	XP_016885098.1:p.Glu1347Ala
XM_017029610.1:c.4037A>C	XP_016885099.1:p.Glu1346Ala
XM_017029611.1:c.3992A>C	XP_016885100.1:p.Glu1331Ala
XR_001755700.2:n.4583A>C
NM_138270.4:c.4244A>C	NP_612114.2:p.Glu1415Ala
NM_000489.6:c.4358A>C MANE Select	NP_000480.3:p.Glu1453Ala
NM_138270.5:c.4244A>C	NP_612114.2:p.Glu1415Ala