Canonical Allele Identifier: CA413708648

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907779T>G (hg19) ; chrX:g.77652289T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652289T>G , CM000685.2:g.77652289T>G	GRCh38
NC_000023.10:g.76907779T>G , CM000685.1:g.76907779T>G	GRCh37
NC_000023.9:g.76794435T>G	NCBI36
NG_008838.2:g.138933A>C
NG_008838.3:g.138981A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4382A>C MANE Select	ENSP00000362441.4:p.Glu1461Ala
ENST00000373344.9:c.4382A>C	ENSP00000362441.4:p.Glu1461Ala
ENST00000395603.7:c.4268A>C	ENSP00000378967.3:p.Glu1423Ala
ENST00000480283.5:c.*4010A>C	ENSP00000480196.1:n.*4010A>C
NM_000489.4:c.4382A>C	NP_000480.3:p.Glu1461Ala
NM_138270.3:c.4268A>C	NP_612114.2:p.Glu1423Ala
XM_005262153.3:c.4379A>C	XP_005262210.2:p.Glu1460Ala
XM_005262154.3:c.4295A>C	XP_005262211.2:p.Glu1432Ala
XM_005262155.3:c.4265A>C	XP_005262212.2:p.Glu1422Ala
XM_005262156.3:c.4217A>C	XP_005262213.2:p.Glu1406Ala
XM_005262157.3:c.4178A>C	XP_005262214.2:p.Glu1393Ala
XM_006724666.2:c.4265A>C	XP_006724729.1:p.Glu1422Ala
XM_006724667.2:c.4103A>C	XP_006724730.1:p.Glu1368Ala
XM_006724668.2:c.4382A>C	XP_006724731.1:p.Glu1461Ala
XR_938400.1:n.4650A>C
NM_000489.5:c.4382A>C	NP_000480.3:p.Glu1461Ala
XM_005262153.5:c.4379A>C	XP_005262210.2:p.Glu1460Ala
XM_005262154.5:c.4295A>C	XP_005262211.2:p.Glu1432Ala
XM_005262155.4:c.4265A>C	XP_005262212.2:p.Glu1422Ala
XM_005262156.4:c.4217A>C	XP_005262213.2:p.Glu1406Ala
XM_005262157.5:c.4178A>C	XP_005262214.2:p.Glu1393Ala
XM_006724666.4:c.4265A>C	XP_006724729.1:p.Glu1422Ala
XM_006724667.3:c.4103A>C	XP_006724730.1:p.Glu1368Ala
XM_006724668.3:c.4382A>C	XP_006724731.1:p.Glu1461Ala
XM_017029601.2:c.4292A>C	XP_016885090.1:p.Glu1431Ala
XM_017029602.1:c.4262A>C	XP_016885091.1:p.Glu1421Ala
XM_017029603.1:c.4214A>C	XP_016885092.1:p.Glu1405Ala
XM_017029604.2:c.4181A>C	XP_016885093.1:p.Glu1394Ala
XM_017029605.1:c.4178A>C	XP_016885094.1:p.Glu1393Ala
XM_017029606.2:c.4151A>C	XP_016885095.1:p.Glu1384Ala
XM_017029607.2:c.4148A>C	XP_016885096.1:p.Glu1383Ala
XM_017029608.2:c.4100A>C	XP_016885097.1:p.Glu1367Ala
XM_017029609.1:c.4064A>C	XP_016885098.1:p.Glu1355Ala
XM_017029610.1:c.4061A>C	XP_016885099.1:p.Glu1354Ala
XM_017029611.1:c.4016A>C	XP_016885100.1:p.Glu1339Ala
XR_001755700.2:n.4607A>C
NM_138270.4:c.4268A>C	NP_612114.2:p.Glu1423Ala
NM_000489.6:c.4382A>C MANE Select	NP_000480.3:p.Glu1461Ala
NM_138270.5:c.4268A>C	NP_612114.2:p.Glu1423Ala