Canonical Allele Identifier: CA413708469

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907755T>G (hg19) ; chrX:g.77652265T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652265T>G , CM000685.2:g.77652265T>G	GRCh38
NC_000023.10:g.76907755T>G , CM000685.1:g.76907755T>G	GRCh37
NC_000023.9:g.76794411T>G	NCBI36
NG_008838.2:g.138957A>C
NG_008838.3:g.139005A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4406A>C MANE Select	ENSP00000362441.4:p.Asp1469Ala
ENST00000373344.9:c.4406A>C	ENSP00000362441.4:p.Asp1469Ala
ENST00000395603.7:c.4292A>C	ENSP00000378967.3:p.Asp1431Ala
ENST00000480283.5:c.*4034A>C	ENSP00000480196.1:n.*4034A>C
ENST00000623242.3:c.12A>C
NM_000489.4:c.4406A>C	NP_000480.3:p.Asp1469Ala
NM_138270.3:c.4292A>C	NP_612114.2:p.Asp1431Ala
XM_005262153.3:c.4403A>C	XP_005262210.2:p.Asp1468Ala
XM_005262154.3:c.4319A>C	XP_005262211.2:p.Asp1440Ala
XM_005262155.3:c.4289A>C	XP_005262212.2:p.Asp1430Ala
XM_005262156.3:c.4241A>C	XP_005262213.2:p.Asp1414Ala
XM_005262157.3:c.4202A>C	XP_005262214.2:p.Asp1401Ala
XM_006724666.2:c.4289A>C	XP_006724729.1:p.Asp1430Ala
XM_006724667.2:c.4127A>C	XP_006724730.1:p.Asp1376Ala
XM_006724668.2:c.4406A>C	XP_006724731.1:p.Asp1469Ala
XR_938400.1:n.4674A>C
NM_000489.5:c.4406A>C	NP_000480.3:p.Asp1469Ala
XM_005262153.5:c.4403A>C	XP_005262210.2:p.Asp1468Ala
XM_005262154.5:c.4319A>C	XP_005262211.2:p.Asp1440Ala
XM_005262155.4:c.4289A>C	XP_005262212.2:p.Asp1430Ala
XM_005262156.4:c.4241A>C	XP_005262213.2:p.Asp1414Ala
XM_005262157.5:c.4202A>C	XP_005262214.2:p.Asp1401Ala
XM_006724666.4:c.4289A>C	XP_006724729.1:p.Asp1430Ala
XM_006724667.3:c.4127A>C	XP_006724730.1:p.Asp1376Ala
XM_006724668.3:c.4406A>C	XP_006724731.1:p.Asp1469Ala
XM_017029601.2:c.4316A>C	XP_016885090.1:p.Asp1439Ala
XM_017029602.1:c.4286A>C	XP_016885091.1:p.Asp1429Ala
XM_017029603.1:c.4238A>C	XP_016885092.1:p.Asp1413Ala
XM_017029604.2:c.4205A>C	XP_016885093.1:p.Asp1402Ala
XM_017029605.1:c.4202A>C	XP_016885094.1:p.Asp1401Ala
XM_017029606.2:c.4175A>C	XP_016885095.1:p.Asp1392Ala
XM_017029607.2:c.4172A>C	XP_016885096.1:p.Asp1391Ala
XM_017029608.2:c.4124A>C	XP_016885097.1:p.Asp1375Ala
XM_017029609.1:c.4088A>C	XP_016885098.1:p.Asp1363Ala
XM_017029610.1:c.4085A>C	XP_016885099.1:p.Asp1362Ala
XM_017029611.1:c.4040A>C	XP_016885100.1:p.Asp1347Ala
XR_001755700.2:n.4631A>C
NM_138270.4:c.4292A>C	NP_612114.2:p.Asp1431Ala
NM_000489.6:c.4406A>C MANE Select	NP_000480.3:p.Asp1469Ala
NM_138270.5:c.4292A>C	NP_612114.2:p.Asp1431Ala