Canonical Allele Identifier: CA413708219

Gene: ATRX

Linked Data

• dbSNP Id: rs2069280007
• gnomAD v4: X-77652214-T-A
• MyVariant Identifiers: chrX:g.76907704T>A (hg19) ; chrX:g.77652214T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652214T>A , CM000685.2:g.77652214T>A	GRCh38
NC_000023.10:g.76907704T>A , CM000685.1:g.76907704T>A	GRCh37
NC_000023.9:g.76794360T>A	NCBI36
NG_008838.2:g.139008A>T
NG_008838.3:g.139056A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4457A>T MANE Select	ENSP00000362441.4:p.Asp1486Val
ENST00000373344.9:c.4457A>T	ENSP00000362441.4:p.Asp1486Val
ENST00000395603.7:c.4343A>T	ENSP00000378967.3:p.Asp1448Val
ENST00000480283.5:c.*4085A>T	ENSP00000480196.1:n.*4085A>T
ENST00000623242.3:c.63A>T
NM_000489.4:c.4457A>T	NP_000480.3:p.Asp1486Val
NM_138270.3:c.4343A>T	NP_612114.2:p.Asp1448Val
XM_005262153.3:c.4454A>T	XP_005262210.2:p.Asp1485Val
XM_005262154.3:c.4370A>T	XP_005262211.2:p.Asp1457Val
XM_005262155.3:c.4340A>T	XP_005262212.2:p.Asp1447Val
XM_005262156.3:c.4292A>T	XP_005262213.2:p.Asp1431Val
XM_005262157.3:c.4253A>T	XP_005262214.2:p.Asp1418Val
XM_006724666.2:c.4340A>T	XP_006724729.1:p.Asp1447Val
XM_006724667.2:c.4178A>T	XP_006724730.1:p.Asp1393Val
XM_006724668.2:c.4457A>T	XP_006724731.1:p.Asp1486Val
XR_938400.1:n.4725A>T
NM_000489.5:c.4457A>T	NP_000480.3:p.Asp1486Val
XM_005262153.5:c.4454A>T	XP_005262210.2:p.Asp1485Val
XM_005262154.5:c.4370A>T	XP_005262211.2:p.Asp1457Val
XM_005262155.4:c.4340A>T	XP_005262212.2:p.Asp1447Val
XM_005262156.4:c.4292A>T	XP_005262213.2:p.Asp1431Val
XM_005262157.5:c.4253A>T	XP_005262214.2:p.Asp1418Val
XM_006724666.4:c.4340A>T	XP_006724729.1:p.Asp1447Val
XM_006724667.3:c.4178A>T	XP_006724730.1:p.Asp1393Val
XM_006724668.3:c.4457A>T	XP_006724731.1:p.Asp1486Val
XM_017029601.2:c.4367A>T	XP_016885090.1:p.Asp1456Val
XM_017029602.1:c.4337A>T	XP_016885091.1:p.Asp1446Val
XM_017029603.1:c.4289A>T	XP_016885092.1:p.Asp1430Val
XM_017029604.2:c.4256A>T	XP_016885093.1:p.Asp1419Val
XM_017029605.1:c.4253A>T	XP_016885094.1:p.Asp1418Val
XM_017029606.2:c.4226A>T	XP_016885095.1:p.Asp1409Val
XM_017029607.2:c.4223A>T	XP_016885096.1:p.Asp1408Val
XM_017029608.2:c.4175A>T	XP_016885097.1:p.Asp1392Val
XM_017029609.1:c.4139A>T	XP_016885098.1:p.Asp1380Val
XM_017029610.1:c.4136A>T	XP_016885099.1:p.Asp1379Val
XM_017029611.1:c.4091A>T	XP_016885100.1:p.Asp1364Val
XR_001755700.2:n.4682A>T
NM_138270.4:c.4343A>T	NP_612114.2:p.Asp1448Val
NM_000489.6:c.4457A>T MANE Select	NP_000480.3:p.Asp1486Val
NM_138270.5:c.4343A>T	NP_612114.2:p.Asp1448Val