Canonical Allele Identifier: CA413708114

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907686T>G (hg19) ; chrX:g.77652196T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652196T>G , CM000685.2:g.77652196T>G	GRCh38
NC_000023.10:g.76907686T>G , CM000685.1:g.76907686T>G	GRCh37
NC_000023.9:g.76794342T>G	NCBI36
NG_008838.2:g.139026A>C
NG_008838.3:g.139074A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4475A>C MANE Select	ENSP00000362441.4:p.Glu1492Ala
ENST00000373344.9:c.4475A>C	ENSP00000362441.4:p.Glu1492Ala
ENST00000395603.7:c.4361A>C	ENSP00000378967.3:p.Glu1454Ala
ENST00000480283.5:c.*4103A>C	ENSP00000480196.1:n.*4103A>C
ENST00000623242.3:c.81A>C
NM_000489.4:c.4475A>C	NP_000480.3:p.Glu1492Ala
NM_138270.3:c.4361A>C	NP_612114.2:p.Glu1454Ala
XM_005262153.3:c.4472A>C	XP_005262210.2:p.Glu1491Ala
XM_005262154.3:c.4388A>C	XP_005262211.2:p.Glu1463Ala
XM_005262155.3:c.4358A>C	XP_005262212.2:p.Glu1453Ala
XM_005262156.3:c.4310A>C	XP_005262213.2:p.Glu1437Ala
XM_005262157.3:c.4271A>C	XP_005262214.2:p.Glu1424Ala
XM_006724666.2:c.4358A>C	XP_006724729.1:p.Glu1453Ala
XM_006724667.2:c.4196A>C	XP_006724730.1:p.Glu1399Ala
XM_006724668.2:c.4475A>C	XP_006724731.1:p.Glu1492Ala
XR_938400.1:n.4743A>C
NM_000489.5:c.4475A>C	NP_000480.3:p.Glu1492Ala
XM_005262153.5:c.4472A>C	XP_005262210.2:p.Glu1491Ala
XM_005262154.5:c.4388A>C	XP_005262211.2:p.Glu1463Ala
XM_005262155.4:c.4358A>C	XP_005262212.2:p.Glu1453Ala
XM_005262156.4:c.4310A>C	XP_005262213.2:p.Glu1437Ala
XM_005262157.5:c.4271A>C	XP_005262214.2:p.Glu1424Ala
XM_006724666.4:c.4358A>C	XP_006724729.1:p.Glu1453Ala
XM_006724667.3:c.4196A>C	XP_006724730.1:p.Glu1399Ala
XM_006724668.3:c.4475A>C	XP_006724731.1:p.Glu1492Ala
XM_017029601.2:c.4385A>C	XP_016885090.1:p.Glu1462Ala
XM_017029602.1:c.4355A>C	XP_016885091.1:p.Glu1452Ala
XM_017029603.1:c.4307A>C	XP_016885092.1:p.Glu1436Ala
XM_017029604.2:c.4274A>C	XP_016885093.1:p.Glu1425Ala
XM_017029605.1:c.4271A>C	XP_016885094.1:p.Glu1424Ala
XM_017029606.2:c.4244A>C	XP_016885095.1:p.Glu1415Ala
XM_017029607.2:c.4241A>C	XP_016885096.1:p.Glu1414Ala
XM_017029608.2:c.4193A>C	XP_016885097.1:p.Glu1398Ala
XM_017029609.1:c.4157A>C	XP_016885098.1:p.Glu1386Ala
XM_017029610.1:c.4154A>C	XP_016885099.1:p.Glu1385Ala
XM_017029611.1:c.4109A>C	XP_016885100.1:p.Glu1370Ala
XR_001755700.2:n.4700A>C
NM_138270.4:c.4361A>C	NP_612114.2:p.Glu1454Ala
NM_000489.6:c.4475A>C MANE Select	NP_000480.3:p.Glu1492Ala
NM_138270.5:c.4361A>C	NP_612114.2:p.Glu1454Ala