Canonical Allele Identifier: CA517471511

Gene: ATRX

Linked Data

• gnomAD v2: X-76907817-T-C
• gnomAD v4: X-77652327-T-C
• MyVariant Identifiers: chrX:g.76907817T>C (hg19) ; chrX:g.76907817_76907820delinsCTCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652327T>C , CM000685.2:g.77652327T>C	GRCh38
NC_000023.10:g.76907817T>C , CM000685.1:g.76907817T>C	GRCh37
NC_000023.9:g.76794473T>C	NCBI36
NG_008838.2:g.138895A>G
NG_008838.3:g.138943A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4344A>G MANE Select	ENSP00000362441.4:p.Glu1448=
ENST00000373344.9:c.4344A>G	ENSP00000362441.4:p.Glu1448=
ENST00000395603.7:c.4230A>G	ENSP00000378967.3:p.Glu1410=
ENST00000480283.5:c.*3972A>G	ENSP00000480196.1:n.*3972A>G
NM_000489.4:c.4344A>G	NP_000480.3:p.Glu1448=
NM_138270.3:c.4230A>G	NP_612114.2:p.Glu1410=
XM_005262153.3:c.4341A>G	XP_005262210.2:p.Glu1447=
XM_005262154.3:c.4257A>G	XP_005262211.2:p.Glu1419=
XM_005262155.3:c.4227A>G	XP_005262212.2:p.Glu1409=
XM_005262156.3:c.4179A>G	XP_005262213.2:p.Glu1393=
XM_005262157.3:c.4140A>G	XP_005262214.2:p.Glu1380=
XM_006724666.2:c.4227A>G	XP_006724729.1:p.Glu1409=
XM_006724667.2:c.4065A>G	XP_006724730.1:p.Glu1355=
XM_006724668.2:c.4344A>G	XP_006724731.1:p.Glu1448=
XR_938400.1:n.4612A>G
NM_000489.5:c.4344A>G	NP_000480.3:p.Glu1448=
XM_005262153.5:c.4341A>G	XP_005262210.2:p.Glu1447=
XM_005262154.5:c.4257A>G	XP_005262211.2:p.Glu1419=
XM_005262155.4:c.4227A>G	XP_005262212.2:p.Glu1409=
XM_005262156.4:c.4179A>G	XP_005262213.2:p.Glu1393=
XM_005262157.5:c.4140A>G	XP_005262214.2:p.Glu1380=
XM_006724666.4:c.4227A>G	XP_006724729.1:p.Glu1409=
XM_006724667.3:c.4065A>G	XP_006724730.1:p.Glu1355=
XM_006724668.3:c.4344A>G	XP_006724731.1:p.Glu1448=
XM_017029601.2:c.4254A>G	XP_016885090.1:p.Glu1418=
XM_017029602.1:c.4224A>G	XP_016885091.1:p.Glu1408=
XM_017029603.1:c.4176A>G	XP_016885092.1:p.Glu1392=
XM_017029604.2:c.4143A>G	XP_016885093.1:p.Glu1381=
XM_017029605.1:c.4140A>G	XP_016885094.1:p.Glu1380=
XM_017029606.2:c.4113A>G	XP_016885095.1:p.Glu1371=
XM_017029607.2:c.4110A>G	XP_016885096.1:p.Glu1370=
XM_017029608.2:c.4062A>G	XP_016885097.1:p.Glu1354=
XM_017029609.1:c.4026A>G	XP_016885098.1:p.Glu1342=
XM_017029610.1:c.4023A>G	XP_016885099.1:p.Glu1341=
XM_017029611.1:c.3978A>G	XP_016885100.1:p.Glu1326=
XR_001755700.2:n.4569A>G
NM_138270.4:c.4230A>G	NP_612114.2:p.Glu1410=
NM_000489.6:c.4344A>G MANE Select	NP_000480.3:p.Glu1448=
NM_138270.5:c.4230A>G	NP_612114.2:p.Glu1410=