Canonical Allele Identifier: CA413701279

Gene: ATRX

Linked Data

• COSMIC: COSM5766182
• MyVariant Identifiers: chrX:g.76829815T>A (hg19) ; chrX:g.77574350T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574350T>A , CM000685.2:g.77574350T>A	GRCh38
NC_000023.10:g.76829815T>A , CM000685.1:g.76829815T>A	GRCh37
NC_000023.9:g.76716471T>A	NCBI36
NG_008838.2:g.216872A>T
NG_008838.3:g.216920A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6226A>T MANE Select	ENSP00000362441.4:p.Lys2076Ter
ENST00000636152.1:n.61A>T
ENST00000675732.1:c.1324A>T	ENSP00000502598.1:p.Lys442Ter
ENST00000373344.9:c.6226A>T	ENSP00000362441.4:p.Lys2076Ter
ENST00000395603.7:c.6112A>T	ENSP00000378967.3:p.Lys2038Ter
ENST00000480283.5:c.*5854A>T	ENSP00000480196.1:n.*5854A>T
ENST00000623316.1:c.710A>T
ENST00000623706.3:n.3296A>T
NM_000489.4:c.6226A>T	NP_000480.3:p.Lys2076Ter
NM_138270.3:c.6112A>T	NP_612114.2:p.Lys2038Ter
XM_005262153.3:c.6223A>T	XP_005262210.2:p.Lys2075Ter
XM_005262154.3:c.6139A>T	XP_005262211.2:p.Lys2047Ter
XM_005262155.3:c.6109A>T	XP_005262212.2:p.Lys2037Ter
XM_005262156.3:c.6061A>T	XP_005262213.2:p.Lys2021Ter
XM_005262157.3:c.6022A>T	XP_005262214.2:p.Lys2008Ter
XM_006724666.2:c.6109A>T	XP_006724729.1:p.Lys2037Ter
XM_006724667.2:c.5947A>T	XP_006724730.1:p.Lys1983Ter
XR_938400.1:n.6568A>T
NM_000489.5:c.6226A>T	NP_000480.3:p.Lys2076Ter
XM_005262153.5:c.6223A>T	XP_005262210.2:p.Lys2075Ter
XM_005262154.5:c.6139A>T	XP_005262211.2:p.Lys2047Ter
XM_005262155.4:c.6109A>T	XP_005262212.2:p.Lys2037Ter
XM_005262156.4:c.6061A>T	XP_005262213.2:p.Lys2021Ter
XM_005262157.5:c.6022A>T	XP_005262214.2:p.Lys2008Ter
XM_006724666.4:c.6109A>T	XP_006724729.1:p.Lys2037Ter
XM_006724667.3:c.5947A>T	XP_006724730.1:p.Lys1983Ter
XM_017029601.2:c.6136A>T	XP_016885090.1:p.Lys2046Ter
XM_017029602.1:c.6106A>T	XP_016885091.1:p.Lys2036Ter
XM_017029603.1:c.6058A>T	XP_016885092.1:p.Lys2020Ter
XM_017029604.2:c.6025A>T	XP_016885093.1:p.Lys2009Ter
XM_017029605.1:c.6022A>T	XP_016885094.1:p.Lys2008Ter
XM_017029606.2:c.5995A>T	XP_016885095.1:p.Lys1999Ter
XM_017029607.2:c.5992A>T	XP_016885096.1:p.Lys1998Ter
XM_017029608.2:c.5944A>T	XP_016885097.1:p.Lys1982Ter
XM_017029609.1:c.5908A>T	XP_016885098.1:p.Lys1970Ter
XM_017029610.1:c.5905A>T	XP_016885099.1:p.Lys1969Ter
XM_017029611.1:c.5860A>T	XP_016885100.1:p.Lys1954Ter
XR_001755700.2:n.6525A>T
NM_138270.4:c.6112A>T	NP_612114.2:p.Lys2038Ter
NM_000489.6:c.6226A>T MANE Select	NP_000480.3:p.Lys2076Ter
NM_138270.5:c.6112A>T	NP_612114.2:p.Lys2038Ter