Canonical Allele Identifier: CA413708588

Gene: ATRX

Linked Data

• dbSNP Id: rs1419177341
• gnomAD v3: X-77652280-T-G
• gnomAD v4: X-77652280-T-G
• MyVariant Identifiers: chrX:g.76907770T>G (hg19) ; chrX:g.77652280T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652280T>G , CM000685.2:g.77652280T>G	GRCh38
NC_000023.10:g.76907770T>G , CM000685.1:g.76907770T>G	GRCh37
NC_000023.9:g.76794426T>G	NCBI36
NG_008838.2:g.138942A>C
NG_008838.3:g.138990A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4391A>C MANE Select	ENSP00000362441.4:p.Glu1464Ala
ENST00000373344.9:c.4391A>C	ENSP00000362441.4:p.Glu1464Ala
ENST00000395603.7:c.4277A>C	ENSP00000378967.3:p.Glu1426Ala
ENST00000480283.5:c.*4019A>C	ENSP00000480196.1:n.*4019A>C
NM_000489.4:c.4391A>C	NP_000480.3:p.Glu1464Ala
NM_138270.3:c.4277A>C	NP_612114.2:p.Glu1426Ala
XM_005262153.3:c.4388A>C	XP_005262210.2:p.Glu1463Ala
XM_005262154.3:c.4304A>C	XP_005262211.2:p.Glu1435Ala
XM_005262155.3:c.4274A>C	XP_005262212.2:p.Glu1425Ala
XM_005262156.3:c.4226A>C	XP_005262213.2:p.Glu1409Ala
XM_005262157.3:c.4187A>C	XP_005262214.2:p.Glu1396Ala
XM_006724666.2:c.4274A>C	XP_006724729.1:p.Glu1425Ala
XM_006724667.2:c.4112A>C	XP_006724730.1:p.Glu1371Ala
XM_006724668.2:c.4391A>C	XP_006724731.1:p.Glu1464Ala
XR_938400.1:n.4659A>C
NM_000489.5:c.4391A>C	NP_000480.3:p.Glu1464Ala
XM_005262153.5:c.4388A>C	XP_005262210.2:p.Glu1463Ala
XM_005262154.5:c.4304A>C	XP_005262211.2:p.Glu1435Ala
XM_005262155.4:c.4274A>C	XP_005262212.2:p.Glu1425Ala
XM_005262156.4:c.4226A>C	XP_005262213.2:p.Glu1409Ala
XM_005262157.5:c.4187A>C	XP_005262214.2:p.Glu1396Ala
XM_006724666.4:c.4274A>C	XP_006724729.1:p.Glu1425Ala
XM_006724667.3:c.4112A>C	XP_006724730.1:p.Glu1371Ala
XM_006724668.3:c.4391A>C	XP_006724731.1:p.Glu1464Ala
XM_017029601.2:c.4301A>C	XP_016885090.1:p.Glu1434Ala
XM_017029602.1:c.4271A>C	XP_016885091.1:p.Glu1424Ala
XM_017029603.1:c.4223A>C	XP_016885092.1:p.Glu1408Ala
XM_017029604.2:c.4190A>C	XP_016885093.1:p.Glu1397Ala
XM_017029605.1:c.4187A>C	XP_016885094.1:p.Glu1396Ala
XM_017029606.2:c.4160A>C	XP_016885095.1:p.Glu1387Ala
XM_017029607.2:c.4157A>C	XP_016885096.1:p.Glu1386Ala
XM_017029608.2:c.4109A>C	XP_016885097.1:p.Glu1370Ala
XM_017029609.1:c.4073A>C	XP_016885098.1:p.Glu1358Ala
XM_017029610.1:c.4070A>C	XP_016885099.1:p.Glu1357Ala
XM_017029611.1:c.4025A>C	XP_016885100.1:p.Glu1342Ala
XR_001755700.2:n.4616A>C
NM_138270.4:c.4277A>C	NP_612114.2:p.Glu1426Ala
NM_000489.6:c.4391A>C MANE Select	NP_000480.3:p.Glu1464Ala
NM_138270.5:c.4277A>C	NP_612114.2:p.Glu1426Ala