Canonical Allele Identifier: CA413708984

Gene: ATRX

Linked Data

• dbSNP Id: rs2148440496
• gnomAD v4: X-77652341-C-T
• MyVariant Identifiers: chrX:g.76907831C>T (hg19) ; chrX:g.77652341C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652341C>T , CM000685.2:g.77652341C>T	GRCh38
NC_000023.10:g.76907831C>T , CM000685.1:g.76907831C>T	GRCh37
NC_000023.9:g.76794487C>T	NCBI36
NG_008838.2:g.138881G>A
NG_008838.3:g.138929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4330G>A MANE Select	ENSP00000362441.4:p.Glu1444Lys
ENST00000373344.9:c.4330G>A	ENSP00000362441.4:p.Glu1444Lys
ENST00000395603.7:c.4216G>A	ENSP00000378967.3:p.Glu1406Lys
ENST00000480283.5:c.*3958G>A	ENSP00000480196.1:n.*3958G>A
NM_000489.4:c.4330G>A	NP_000480.3:p.Glu1444Lys
NM_138270.3:c.4216G>A	NP_612114.2:p.Glu1406Lys
XM_005262153.3:c.4327G>A	XP_005262210.2:p.Glu1443Lys
XM_005262154.3:c.4243G>A	XP_005262211.2:p.Glu1415Lys
XM_005262155.3:c.4213G>A	XP_005262212.2:p.Glu1405Lys
XM_005262156.3:c.4165G>A	XP_005262213.2:p.Glu1389Lys
XM_005262157.3:c.4126G>A	XP_005262214.2:p.Glu1376Lys
XM_006724666.2:c.4213G>A	XP_006724729.1:p.Glu1405Lys
XM_006724667.2:c.4051G>A	XP_006724730.1:p.Glu1351Lys
XM_006724668.2:c.4330G>A	XP_006724731.1:p.Glu1444Lys
XR_938400.1:n.4598G>A
NM_000489.5:c.4330G>A	NP_000480.3:p.Glu1444Lys
XM_005262153.5:c.4327G>A	XP_005262210.2:p.Glu1443Lys
XM_005262154.5:c.4243G>A	XP_005262211.2:p.Glu1415Lys
XM_005262155.4:c.4213G>A	XP_005262212.2:p.Glu1405Lys
XM_005262156.4:c.4165G>A	XP_005262213.2:p.Glu1389Lys
XM_005262157.5:c.4126G>A	XP_005262214.2:p.Glu1376Lys
XM_006724666.4:c.4213G>A	XP_006724729.1:p.Glu1405Lys
XM_006724667.3:c.4051G>A	XP_006724730.1:p.Glu1351Lys
XM_006724668.3:c.4330G>A	XP_006724731.1:p.Glu1444Lys
XM_017029601.2:c.4240G>A	XP_016885090.1:p.Glu1414Lys
XM_017029602.1:c.4210G>A	XP_016885091.1:p.Glu1404Lys
XM_017029603.1:c.4162G>A	XP_016885092.1:p.Glu1388Lys
XM_017029604.2:c.4129G>A	XP_016885093.1:p.Glu1377Lys
XM_017029605.1:c.4126G>A	XP_016885094.1:p.Glu1376Lys
XM_017029606.2:c.4099G>A	XP_016885095.1:p.Glu1367Lys
XM_017029607.2:c.4096G>A	XP_016885096.1:p.Glu1366Lys
XM_017029608.2:c.4048G>A	XP_016885097.1:p.Glu1350Lys
XM_017029609.1:c.4012G>A	XP_016885098.1:p.Glu1338Lys
XM_017029610.1:c.4009G>A	XP_016885099.1:p.Glu1337Lys
XM_017029611.1:c.3964G>A	XP_016885100.1:p.Glu1322Lys
XR_001755700.2:n.4555G>A
NM_138270.4:c.4216G>A	NP_612114.2:p.Glu1406Lys
NM_000489.6:c.4330G>A MANE Select	NP_000480.3:p.Glu1444Lys
NM_138270.5:c.4216G>A	NP_612114.2:p.Glu1406Lys