Canonical Allele Identifier: CA413701302

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829821C>A (hg19) ; chrX:g.77574356C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574356C>A , CM000685.2:g.77574356C>A	GRCh38
NC_000023.10:g.76829821C>A , CM000685.1:g.76829821C>A	GRCh37
NC_000023.9:g.76716477C>A	NCBI36
NG_008838.2:g.216866G>T
NG_008838.3:g.216914G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6220G>T MANE Select	ENSP00000362441.4:p.Glu2074Ter
ENST00000636152.1:n.55G>T
ENST00000675732.1:c.1318G>T	ENSP00000502598.1:p.Glu440Ter
ENST00000373344.9:c.6220G>T	ENSP00000362441.4:p.Glu2074Ter
ENST00000395603.7:c.6106G>T	ENSP00000378967.3:p.Glu2036Ter
ENST00000480283.5:c.*5848G>T	ENSP00000480196.1:n.*5848G>T
ENST00000623316.1:c.704G>T
ENST00000623706.3:n.3290G>T
NM_000489.4:c.6220G>T	NP_000480.3:p.Glu2074Ter
NM_138270.3:c.6106G>T	NP_612114.2:p.Glu2036Ter
XM_005262153.3:c.6217G>T	XP_005262210.2:p.Glu2073Ter
XM_005262154.3:c.6133G>T	XP_005262211.2:p.Glu2045Ter
XM_005262155.3:c.6103G>T	XP_005262212.2:p.Glu2035Ter
XM_005262156.3:c.6055G>T	XP_005262213.2:p.Glu2019Ter
XM_005262157.3:c.6016G>T	XP_005262214.2:p.Glu2006Ter
XM_006724666.2:c.6103G>T	XP_006724729.1:p.Glu2035Ter
XM_006724667.2:c.5941G>T	XP_006724730.1:p.Glu1981Ter
XR_938400.1:n.6562G>T
NM_000489.5:c.6220G>T	NP_000480.3:p.Glu2074Ter
XM_005262153.5:c.6217G>T	XP_005262210.2:p.Glu2073Ter
XM_005262154.5:c.6133G>T	XP_005262211.2:p.Glu2045Ter
XM_005262155.4:c.6103G>T	XP_005262212.2:p.Glu2035Ter
XM_005262156.4:c.6055G>T	XP_005262213.2:p.Glu2019Ter
XM_005262157.5:c.6016G>T	XP_005262214.2:p.Glu2006Ter
XM_006724666.4:c.6103G>T	XP_006724729.1:p.Glu2035Ter
XM_006724667.3:c.5941G>T	XP_006724730.1:p.Glu1981Ter
XM_017029601.2:c.6130G>T	XP_016885090.1:p.Glu2044Ter
XM_017029602.1:c.6100G>T	XP_016885091.1:p.Glu2034Ter
XM_017029603.1:c.6052G>T	XP_016885092.1:p.Glu2018Ter
XM_017029604.2:c.6019G>T	XP_016885093.1:p.Glu2007Ter
XM_017029605.1:c.6016G>T	XP_016885094.1:p.Glu2006Ter
XM_017029606.2:c.5989G>T	XP_016885095.1:p.Glu1997Ter
XM_017029607.2:c.5986G>T	XP_016885096.1:p.Glu1996Ter
XM_017029608.2:c.5938G>T	XP_016885097.1:p.Glu1980Ter
XM_017029609.1:c.5902G>T	XP_016885098.1:p.Glu1968Ter
XM_017029610.1:c.5899G>T	XP_016885099.1:p.Glu1967Ter
XM_017029611.1:c.5854G>T	XP_016885100.1:p.Glu1952Ter
XR_001755700.2:n.6519G>T
NM_138270.4:c.6106G>T	NP_612114.2:p.Glu2036Ter
NM_000489.6:c.6220G>T MANE Select	NP_000480.3:p.Glu2074Ter
NM_138270.5:c.6106G>T	NP_612114.2:p.Glu2036Ter