Canonical Allele Identifier: CA413707105

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1757416
• ClinVar RCV Id: RCV002367562
• gnomAD v4: X-77520831-C-T
• MyVariant Identifiers: chrX:g.76776309C>T (hg19) ; chrX:g.77520831C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520831C>T , CM000685.2:g.77520831C>T	GRCh38
NC_000023.10:g.76776309C>T , CM000685.1:g.76776309C>T	GRCh37
NC_000023.9:g.76662965C>T	NCBI36
NG_008838.2:g.270391G>A
NG_008838.3:g.270439G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7157G>A MANE Select	ENSP00000362441.4:p.Arg2386Gln
ENST00000675732.1:c.2255G>A	ENSP00000502598.1:p.Arg752Gln
ENST00000373344.9:c.7157G>A	ENSP00000362441.4:p.Arg2386Gln
ENST00000395603.7:c.7043G>A	ENSP00000378967.3:p.Arg2348Gln
ENST00000480283.5:c.*6785G>A	ENSP00000480196.1:n.*6785G>A
ENST00000623706.3:n.5477G>A
ENST00000624766.1:n.388G>A
NM_000489.4:c.7157G>A	NP_000480.3:p.Arg2386Gln
NM_138270.3:c.7043G>A	NP_612114.2:p.Arg2348Gln
XM_005262153.3:c.7154G>A	XP_005262210.2:p.Arg2385Gln
XM_005262154.3:c.7070G>A	XP_005262211.2:p.Arg2357Gln
XM_005262155.3:c.7040G>A	XP_005262212.2:p.Arg2347Gln
XM_005262156.3:c.6992G>A	XP_005262213.2:p.Arg2331Gln
XM_005262157.3:c.6953G>A	XP_005262214.2:p.Arg2318Gln
XM_006724666.2:c.7040G>A	XP_006724729.1:p.Arg2347Gln
XM_006724667.2:c.6878G>A	XP_006724730.1:p.Arg2293Gln
XR_938400.1:n.8749G>A
NM_000489.5:c.7157G>A	NP_000480.3:p.Arg2386Gln
XM_005262153.5:c.7154G>A	XP_005262210.2:p.Arg2385Gln
XM_005262154.5:c.7070G>A	XP_005262211.2:p.Arg2357Gln
XM_005262155.4:c.7040G>A	XP_005262212.2:p.Arg2347Gln
XM_005262156.4:c.6992G>A	XP_005262213.2:p.Arg2331Gln
XM_005262157.5:c.6953G>A	XP_005262214.2:p.Arg2318Gln
XM_006724666.4:c.7040G>A	XP_006724729.1:p.Arg2347Gln
XM_006724667.3:c.6878G>A	XP_006724730.1:p.Arg2293Gln
XM_017029601.2:c.7067G>A	XP_016885090.1:p.Arg2356Gln
XM_017029602.1:c.7037G>A	XP_016885091.1:p.Arg2346Gln
XM_017029603.1:c.6989G>A	XP_016885092.1:p.Arg2330Gln
XM_017029604.2:c.6956G>A	XP_016885093.1:p.Arg2319Gln
XM_017029605.1:c.6953G>A	XP_016885094.1:p.Arg2318Gln
XM_017029606.2:c.6926G>A	XP_016885095.1:p.Arg2309Gln
XM_017029607.2:c.6923G>A	XP_016885096.1:p.Arg2308Gln
XM_017029608.2:c.6875G>A	XP_016885097.1:p.Arg2292Gln
XM_017029609.1:c.6839G>A	XP_016885098.1:p.Arg2280Gln
XM_017029610.1:c.6836G>A	XP_016885099.1:p.Arg2279Gln
XM_017029611.1:c.6791G>A	XP_016885100.1:p.Arg2264Gln
XR_001755700.2:n.7456G>A
NM_138270.4:c.7043G>A	NP_612114.2:p.Arg2348Gln
NM_000489.6:c.7157G>A MANE Select	NP_000480.3:p.Arg2386Gln
NM_138270.5:c.7043G>A	NP_612114.2:p.Arg2348Gln