Canonical Allele Identifier: CA121644

Gene: ATRX

Linked Data

• ClinVar Variation Id: 11731
• ClinVar RCV Id: RCV000012497 ; RCV000199096 ; RCV002272014 ; RCV004528102
• dbSNP Id: rs122445101
• gnomAD v4: X-77558781-C-T
• MyVariant Identifiers: chrX:g.76814252C>T (hg19) ; chrX:g.77558781C>T (hg38)
• PubMed: PMID:6682021 ; PMID:8630485 ; PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77558781C>T , CM000685.2:g.77558781C>T	GRCh38
NC_000023.10:g.76814252C>T , CM000685.1:g.76814252C>T	GRCh37
NC_000023.9:g.76700908C>T	NCBI36
NG_008838.2:g.232441G>A
NG_008838.3:g.232489G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6392G>A MANE Select	ENSP00000362441.4:p.Arg2131Gln
ENST00000675732.1:c.1490G>A	ENSP00000502598.1:p.Arg497Gln
ENST00000373344.9:c.6392G>A	ENSP00000362441.4:p.Arg2131Gln
ENST00000395603.7:c.6278G>A	ENSP00000378967.3:p.Arg2093Gln
ENST00000480283.5:c.*6020G>A	ENSP00000480196.1:n.*6020G>A
ENST00000623706.3:n.3462G>A
NM_000489.4:c.6392G>A	NP_000480.3:p.Arg2131Gln
NM_138270.3:c.6278G>A	NP_612114.2:p.Arg2093Gln
XM_005262153.3:c.6389G>A	XP_005262210.2:p.Arg2130Gln
XM_005262154.3:c.6305G>A	XP_005262211.2:p.Arg2102Gln
XM_005262155.3:c.6275G>A	XP_005262212.2:p.Arg2092Gln
XM_005262156.3:c.6227G>A	XP_005262213.2:p.Arg2076Gln
XM_005262157.3:c.6188G>A	XP_005262214.2:p.Arg2063Gln
XM_006724666.2:c.6275G>A	XP_006724729.1:p.Arg2092Gln
XM_006724667.2:c.6113G>A	XP_006724730.1:p.Arg2038Gln
XR_938400.1:n.6734G>A
NM_000489.5:c.6392G>A	NP_000480.3:p.Arg2131Gln
XM_005262153.5:c.6389G>A	XP_005262210.2:p.Arg2130Gln
XM_005262154.5:c.6305G>A	XP_005262211.2:p.Arg2102Gln
XM_005262155.4:c.6275G>A	XP_005262212.2:p.Arg2092Gln
XM_005262156.4:c.6227G>A	XP_005262213.2:p.Arg2076Gln
XM_005262157.5:c.6188G>A	XP_005262214.2:p.Arg2063Gln
XM_006724666.4:c.6275G>A	XP_006724729.1:p.Arg2092Gln
XM_006724667.3:c.6113G>A	XP_006724730.1:p.Arg2038Gln
XM_017029601.2:c.6302G>A	XP_016885090.1:p.Arg2101Gln
XM_017029602.1:c.6272G>A	XP_016885091.1:p.Arg2091Gln
XM_017029603.1:c.6224G>A	XP_016885092.1:p.Arg2075Gln
XM_017029604.2:c.6191G>A	XP_016885093.1:p.Arg2064Gln
XM_017029605.1:c.6188G>A	XP_016885094.1:p.Arg2063Gln
XM_017029606.2:c.6161G>A	XP_016885095.1:p.Arg2054Gln
XM_017029607.2:c.6158G>A	XP_016885096.1:p.Arg2053Gln
XM_017029608.2:c.6110G>A	XP_016885097.1:p.Arg2037Gln
XM_017029609.1:c.6074G>A	XP_016885098.1:p.Arg2025Gln
XM_017029610.1:c.6071G>A	XP_016885099.1:p.Arg2024Gln
XM_017029611.1:c.6026G>A	XP_016885100.1:p.Arg2009Gln
XR_001755700.2:n.6691G>A
NM_138270.4:c.6278G>A	NP_612114.2:p.Arg2093Gln
NM_000489.6:c.6392G>A MANE Select	NP_000480.3:p.Arg2131Gln
NM_138270.5:c.6278G>A	NP_612114.2:p.Arg2093Gln