Canonical Allele Identifier: CA413701196

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829792A>C (hg19) ; chrX:g.77574327A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574327A>C , CM000685.2:g.77574327A>C	GRCh38
NC_000023.10:g.76829792A>C , CM000685.1:g.76829792A>C	GRCh37
NC_000023.9:g.76716448A>C	NCBI36
NG_008838.2:g.216895T>G
NG_008838.3:g.216943T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6249T>G MANE Select	ENSP00000362441.4:p.Tyr2083Ter
ENST00000636152.1:n.84T>G
ENST00000675732.1:c.1347T>G	ENSP00000502598.1:p.Tyr449Ter
ENST00000373344.9:c.6249T>G	ENSP00000362441.4:p.Tyr2083Ter
ENST00000395603.7:c.6135T>G	ENSP00000378967.3:p.Tyr2045Ter
ENST00000480283.5:c.*5877T>G	ENSP00000480196.1:n.*5877T>G
ENST00000623316.1:c.733T>G
ENST00000623706.3:n.3319T>G
NM_000489.4:c.6249T>G	NP_000480.3:p.Tyr2083Ter
NM_138270.3:c.6135T>G	NP_612114.2:p.Tyr2045Ter
XM_005262153.3:c.6246T>G	XP_005262210.2:p.Tyr2082Ter
XM_005262154.3:c.6162T>G	XP_005262211.2:p.Tyr2054Ter
XM_005262155.3:c.6132T>G	XP_005262212.2:p.Tyr2044Ter
XM_005262156.3:c.6084T>G	XP_005262213.2:p.Tyr2028Ter
XM_005262157.3:c.6045T>G	XP_005262214.2:p.Tyr2015Ter
XM_006724666.2:c.6132T>G	XP_006724729.1:p.Tyr2044Ter
XM_006724667.2:c.5970T>G	XP_006724730.1:p.Tyr1990Ter
XR_938400.1:n.6591T>G
NM_000489.5:c.6249T>G	NP_000480.3:p.Tyr2083Ter
XM_005262153.5:c.6246T>G	XP_005262210.2:p.Tyr2082Ter
XM_005262154.5:c.6162T>G	XP_005262211.2:p.Tyr2054Ter
XM_005262155.4:c.6132T>G	XP_005262212.2:p.Tyr2044Ter
XM_005262156.4:c.6084T>G	XP_005262213.2:p.Tyr2028Ter
XM_005262157.5:c.6045T>G	XP_005262214.2:p.Tyr2015Ter
XM_006724666.4:c.6132T>G	XP_006724729.1:p.Tyr2044Ter
XM_006724667.3:c.5970T>G	XP_006724730.1:p.Tyr1990Ter
XM_017029601.2:c.6159T>G	XP_016885090.1:p.Tyr2053Ter
XM_017029602.1:c.6129T>G	XP_016885091.1:p.Tyr2043Ter
XM_017029603.1:c.6081T>G	XP_016885092.1:p.Tyr2027Ter
XM_017029604.2:c.6048T>G	XP_016885093.1:p.Tyr2016Ter
XM_017029605.1:c.6045T>G	XP_016885094.1:p.Tyr2015Ter
XM_017029606.2:c.6018T>G	XP_016885095.1:p.Tyr2006Ter
XM_017029607.2:c.6015T>G	XP_016885096.1:p.Tyr2005Ter
XM_017029608.2:c.5967T>G	XP_016885097.1:p.Tyr1989Ter
XM_017029609.1:c.5931T>G	XP_016885098.1:p.Tyr1977Ter
XM_017029610.1:c.5928T>G	XP_016885099.1:p.Tyr1976Ter
XM_017029611.1:c.5883T>G	XP_016885100.1:p.Tyr1961Ter
XR_001755700.2:n.6548T>G
NM_138270.4:c.6135T>G	NP_612114.2:p.Tyr2045Ter
NM_000489.6:c.6249T>G MANE Select	NP_000480.3:p.Tyr2083Ter
NM_138270.5:c.6135T>G	NP_612114.2:p.Tyr2045Ter