Canonical Allele Identifier: CA10457540

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1146025
• ClinVar RCV Id: RCV001485124 ; RCV003238373
• dbSNP Id: rs369953134
• ExAC: X:76845314 A / G
• gnomAD v2: X-76845314-A-G
• gnomAD v3: X-77589844-A-G
• gnomAD v4: X-77589844-A-G
• MyVariant Identifiers: chrX:g.76845314A>G (hg19) ; chrX:g.77589844A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77589844A>G , CM000685.2:g.77589844A>G	GRCh38
NC_000023.10:g.76845314A>G , CM000685.1:g.76845314A>G	GRCh37
NC_000023.9:g.76731970A>G	NCBI36
NG_008838.2:g.201378T>C
NG_008838.3:g.201426T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6207T>C MANE Select	ENSP00000362441.4:p.Leu2069=
ENST00000636868.1:n.29T>C
ENST00000675732.1:c.1305T>C	ENSP00000502598.1:p.Leu435=
ENST00000373344.9:c.6207T>C	ENSP00000362441.4:p.Leu2069=
ENST00000395603.7:c.6093T>C	ENSP00000378967.3:p.Leu2031=
ENST00000480283.5:c.*5835T>C	ENSP00000480196.1:n.*5835T>C
ENST00000623316.1:c.691T>C
ENST00000623706.3:n.3277T>C
NM_000489.4:c.6207T>C	NP_000480.3:p.Leu2069=
NM_138270.3:c.6093T>C	NP_612114.2:p.Leu2031=
XM_005262153.3:c.6204T>C	XP_005262210.2:p.Leu2068=
XM_005262154.3:c.6120T>C	XP_005262211.2:p.Leu2040=
XM_005262155.3:c.6090T>C	XP_005262212.2:p.Leu2030=
XM_005262156.3:c.6042T>C	XP_005262213.2:p.Leu2014=
XM_005262157.3:c.6003T>C	XP_005262214.2:p.Leu2001=
XM_006724666.2:c.6090T>C	XP_006724729.1:p.Leu2030=
XM_006724667.2:c.5928T>C	XP_006724730.1:p.Leu1976=
XR_938400.1:n.6549T>C
NM_000489.5:c.6207T>C	NP_000480.3:p.Leu2069=
XM_005262153.5:c.6204T>C	XP_005262210.2:p.Leu2068=
XM_005262154.5:c.6120T>C	XP_005262211.2:p.Leu2040=
XM_005262155.4:c.6090T>C	XP_005262212.2:p.Leu2030=
XM_005262156.4:c.6042T>C	XP_005262213.2:p.Leu2014=
XM_005262157.5:c.6003T>C	XP_005262214.2:p.Leu2001=
XM_006724666.4:c.6090T>C	XP_006724729.1:p.Leu2030=
XM_006724667.3:c.5928T>C	XP_006724730.1:p.Leu1976=
XM_017029601.2:c.6117T>C	XP_016885090.1:p.Leu2039=
XM_017029602.1:c.6087T>C	XP_016885091.1:p.Leu2029=
XM_017029603.1:c.6039T>C	XP_016885092.1:p.Leu2013=
XM_017029604.2:c.6006T>C	XP_016885093.1:p.Leu2002=
XM_017029605.1:c.6003T>C	XP_016885094.1:p.Leu2001=
XM_017029606.2:c.5976T>C	XP_016885095.1:p.Leu1992=
XM_017029607.2:c.5973T>C	XP_016885096.1:p.Leu1991=
XM_017029608.2:c.5925T>C	XP_016885097.1:p.Leu1975=
XM_017029609.1:c.5889T>C	XP_016885098.1:p.Leu1963=
XM_017029610.1:c.5886T>C	XP_016885099.1:p.Leu1962=
XM_017029611.1:c.5841T>C	XP_016885100.1:p.Leu1947=
XR_001755700.2:n.6506T>C
NM_138270.4:c.6093T>C	NP_612114.2:p.Leu2031=
NM_000489.6:c.6207T>C MANE Select	NP_000480.3:p.Leu2069=
NM_138270.5:c.6093T>C	NP_612114.2:p.Leu2031=