Canonical Allele Identifier: CA413707142

Gene: ATRX

Linked Data

• dbSNP Id: rs1557041067
• gnomAD v2: X-76776316-C-T
• gnomAD v4: X-77520838-C-T
• MyVariant Identifiers: chrX:g.76776316C>T (hg19) ; chrX:g.77520838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520838C>T , CM000685.2:g.77520838C>T	GRCh38
NC_000023.10:g.76776316C>T , CM000685.1:g.76776316C>T	GRCh37
NC_000023.9:g.76662972C>T	NCBI36
NG_008838.2:g.270384G>A
NG_008838.3:g.270432G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7150G>A MANE Select	ENSP00000362441.4:p.Val2384Ile
ENST00000675732.1:c.2248G>A	ENSP00000502598.1:p.Val750Ile
ENST00000373344.9:c.7150G>A	ENSP00000362441.4:p.Val2384Ile
ENST00000395603.7:c.7036G>A	ENSP00000378967.3:p.Val2346Ile
ENST00000480283.5:c.*6778G>A	ENSP00000480196.1:n.*6778G>A
ENST00000623706.3:n.5470G>A
ENST00000624766.1:n.381G>A
NM_000489.4:c.7150G>A	NP_000480.3:p.Val2384Ile
NM_138270.3:c.7036G>A	NP_612114.2:p.Val2346Ile
XM_005262153.3:c.7147G>A	XP_005262210.2:p.Val2383Ile
XM_005262154.3:c.7063G>A	XP_005262211.2:p.Val2355Ile
XM_005262155.3:c.7033G>A	XP_005262212.2:p.Val2345Ile
XM_005262156.3:c.6985G>A	XP_005262213.2:p.Val2329Ile
XM_005262157.3:c.6946G>A	XP_005262214.2:p.Val2316Ile
XM_006724666.2:c.7033G>A	XP_006724729.1:p.Val2345Ile
XM_006724667.2:c.6871G>A	XP_006724730.1:p.Val2291Ile
XR_938400.1:n.8742G>A
NM_000489.5:c.7150G>A	NP_000480.3:p.Val2384Ile
XM_005262153.5:c.7147G>A	XP_005262210.2:p.Val2383Ile
XM_005262154.5:c.7063G>A	XP_005262211.2:p.Val2355Ile
XM_005262155.4:c.7033G>A	XP_005262212.2:p.Val2345Ile
XM_005262156.4:c.6985G>A	XP_005262213.2:p.Val2329Ile
XM_005262157.5:c.6946G>A	XP_005262214.2:p.Val2316Ile
XM_006724666.4:c.7033G>A	XP_006724729.1:p.Val2345Ile
XM_006724667.3:c.6871G>A	XP_006724730.1:p.Val2291Ile
XM_017029601.2:c.7060G>A	XP_016885090.1:p.Val2354Ile
XM_017029602.1:c.7030G>A	XP_016885091.1:p.Val2344Ile
XM_017029603.1:c.6982G>A	XP_016885092.1:p.Val2328Ile
XM_017029604.2:c.6949G>A	XP_016885093.1:p.Val2317Ile
XM_017029605.1:c.6946G>A	XP_016885094.1:p.Val2316Ile
XM_017029606.2:c.6919G>A	XP_016885095.1:p.Val2307Ile
XM_017029607.2:c.6916G>A	XP_016885096.1:p.Val2306Ile
XM_017029608.2:c.6868G>A	XP_016885097.1:p.Val2290Ile
XM_017029609.1:c.6832G>A	XP_016885098.1:p.Val2278Ile
XM_017029610.1:c.6829G>A	XP_016885099.1:p.Val2277Ile
XM_017029611.1:c.6784G>A	XP_016885100.1:p.Val2262Ile
XR_001755700.2:n.7449G>A
NM_138270.4:c.7036G>A	NP_612114.2:p.Val2346Ile
NM_000489.6:c.7150G>A MANE Select	NP_000480.3:p.Val2384Ile
NM_138270.5:c.7036G>A	NP_612114.2:p.Val2346Ile