Canonical Allele Identifier: CA413700890

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829730T>G (hg19) ; chrX:g.77574265T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574265T>G , CM000685.2:g.77574265T>G	GRCh38
NC_000023.10:g.76829730T>G , CM000685.1:g.76829730T>G	GRCh37
NC_000023.9:g.76716386T>G	NCBI36
NG_008838.2:g.216957A>C
NG_008838.3:g.217005A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6311A>C MANE Select	ENSP00000362441.4:p.Asp2104Ala
ENST00000675732.1:c.1409A>C	ENSP00000502598.1:p.Asp470Ala
ENST00000373344.9:c.6311A>C	ENSP00000362441.4:p.Asp2104Ala
ENST00000395603.7:c.6197A>C	ENSP00000378967.3:p.Asp2066Ala
ENST00000480283.5:c.*5939A>C	ENSP00000480196.1:n.*5939A>C
ENST00000623316.1:c.795A>C
ENST00000623706.3:n.3381A>C
NM_000489.4:c.6311A>C	NP_000480.3:p.Asp2104Ala
NM_138270.3:c.6197A>C	NP_612114.2:p.Asp2066Ala
XM_005262153.3:c.6308A>C	XP_005262210.2:p.Asp2103Ala
XM_005262154.3:c.6224A>C	XP_005262211.2:p.Asp2075Ala
XM_005262155.3:c.6194A>C	XP_005262212.2:p.Asp2065Ala
XM_005262156.3:c.6146A>C	XP_005262213.2:p.Asp2049Ala
XM_005262157.3:c.6107A>C	XP_005262214.2:p.Asp2036Ala
XM_006724666.2:c.6194A>C	XP_006724729.1:p.Asp2065Ala
XM_006724667.2:c.6032A>C	XP_006724730.1:p.Asp2011Ala
XR_938400.1:n.6653A>C
NM_000489.5:c.6311A>C	NP_000480.3:p.Asp2104Ala
XM_005262153.5:c.6308A>C	XP_005262210.2:p.Asp2103Ala
XM_005262154.5:c.6224A>C	XP_005262211.2:p.Asp2075Ala
XM_005262155.4:c.6194A>C	XP_005262212.2:p.Asp2065Ala
XM_005262156.4:c.6146A>C	XP_005262213.2:p.Asp2049Ala
XM_005262157.5:c.6107A>C	XP_005262214.2:p.Asp2036Ala
XM_006724666.4:c.6194A>C	XP_006724729.1:p.Asp2065Ala
XM_006724667.3:c.6032A>C	XP_006724730.1:p.Asp2011Ala
XM_017029601.2:c.6221A>C	XP_016885090.1:p.Asp2074Ala
XM_017029602.1:c.6191A>C	XP_016885091.1:p.Asp2064Ala
XM_017029603.1:c.6143A>C	XP_016885092.1:p.Asp2048Ala
XM_017029604.2:c.6110A>C	XP_016885093.1:p.Asp2037Ala
XM_017029605.1:c.6107A>C	XP_016885094.1:p.Asp2036Ala
XM_017029606.2:c.6080A>C	XP_016885095.1:p.Asp2027Ala
XM_017029607.2:c.6077A>C	XP_016885096.1:p.Asp2026Ala
XM_017029608.2:c.6029A>C	XP_016885097.1:p.Asp2010Ala
XM_017029609.1:c.5993A>C	XP_016885098.1:p.Asp1998Ala
XM_017029610.1:c.5990A>C	XP_016885099.1:p.Asp1997Ala
XM_017029611.1:c.5945A>C	XP_016885100.1:p.Asp1982Ala
XR_001755700.2:n.6610A>C
NM_138270.4:c.6197A>C	NP_612114.2:p.Asp2066Ala
NM_000489.6:c.6311A>C MANE Select	NP_000480.3:p.Asp2104Ala
NM_138270.5:c.6197A>C	NP_612114.2:p.Asp2066Ala