Canonical Allele Identifier: CA413708495

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907758T>G (hg19) ; chrX:g.77652268T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652268T>G , CM000685.2:g.77652268T>G	GRCh38
NC_000023.10:g.76907758T>G , CM000685.1:g.76907758T>G	GRCh37
NC_000023.9:g.76794414T>G	NCBI36
NG_008838.2:g.138954A>C
NG_008838.3:g.139002A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4403A>C MANE Select	ENSP00000362441.4:p.Asp1468Ala
ENST00000373344.9:c.4403A>C	ENSP00000362441.4:p.Asp1468Ala
ENST00000395603.7:c.4289A>C	ENSP00000378967.3:p.Asp1430Ala
ENST00000480283.5:c.*4031A>C	ENSP00000480196.1:n.*4031A>C
ENST00000623242.3:c.9A>C
NM_000489.4:c.4403A>C	NP_000480.3:p.Asp1468Ala
NM_138270.3:c.4289A>C	NP_612114.2:p.Asp1430Ala
XM_005262153.3:c.4400A>C	XP_005262210.2:p.Asp1467Ala
XM_005262154.3:c.4316A>C	XP_005262211.2:p.Asp1439Ala
XM_005262155.3:c.4286A>C	XP_005262212.2:p.Asp1429Ala
XM_005262156.3:c.4238A>C	XP_005262213.2:p.Asp1413Ala
XM_005262157.3:c.4199A>C	XP_005262214.2:p.Asp1400Ala
XM_006724666.2:c.4286A>C	XP_006724729.1:p.Asp1429Ala
XM_006724667.2:c.4124A>C	XP_006724730.1:p.Asp1375Ala
XM_006724668.2:c.4403A>C	XP_006724731.1:p.Asp1468Ala
XR_938400.1:n.4671A>C
NM_000489.5:c.4403A>C	NP_000480.3:p.Asp1468Ala
XM_005262153.5:c.4400A>C	XP_005262210.2:p.Asp1467Ala
XM_005262154.5:c.4316A>C	XP_005262211.2:p.Asp1439Ala
XM_005262155.4:c.4286A>C	XP_005262212.2:p.Asp1429Ala
XM_005262156.4:c.4238A>C	XP_005262213.2:p.Asp1413Ala
XM_005262157.5:c.4199A>C	XP_005262214.2:p.Asp1400Ala
XM_006724666.4:c.4286A>C	XP_006724729.1:p.Asp1429Ala
XM_006724667.3:c.4124A>C	XP_006724730.1:p.Asp1375Ala
XM_006724668.3:c.4403A>C	XP_006724731.1:p.Asp1468Ala
XM_017029601.2:c.4313A>C	XP_016885090.1:p.Asp1438Ala
XM_017029602.1:c.4283A>C	XP_016885091.1:p.Asp1428Ala
XM_017029603.1:c.4235A>C	XP_016885092.1:p.Asp1412Ala
XM_017029604.2:c.4202A>C	XP_016885093.1:p.Asp1401Ala
XM_017029605.1:c.4199A>C	XP_016885094.1:p.Asp1400Ala
XM_017029606.2:c.4172A>C	XP_016885095.1:p.Asp1391Ala
XM_017029607.2:c.4169A>C	XP_016885096.1:p.Asp1390Ala
XM_017029608.2:c.4121A>C	XP_016885097.1:p.Asp1374Ala
XM_017029609.1:c.4085A>C	XP_016885098.1:p.Asp1362Ala
XM_017029610.1:c.4082A>C	XP_016885099.1:p.Asp1361Ala
XM_017029611.1:c.4037A>C	XP_016885100.1:p.Asp1346Ala
XR_001755700.2:n.4628A>C
NM_138270.4:c.4289A>C	NP_612114.2:p.Asp1430Ala
NM_000489.6:c.4403A>C MANE Select	NP_000480.3:p.Asp1468Ala
NM_138270.5:c.4289A>C	NP_612114.2:p.Asp1430Ala