Canonical Allele Identifier: CA413701266

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829812A>G (hg19) ; chrX:g.77574347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574347A>G , CM000685.2:g.77574347A>G	GRCh38
NC_000023.10:g.76829812A>G , CM000685.1:g.76829812A>G	GRCh37
NC_000023.9:g.76716468A>G	NCBI36
NG_008838.2:g.216875T>C
NG_008838.3:g.216923T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6229T>C MANE Select	ENSP00000362441.4:p.Trp2077Arg
ENST00000636152.1:n.64T>C
ENST00000675732.1:c.1327T>C	ENSP00000502598.1:p.Trp443Arg
ENST00000373344.9:c.6229T>C	ENSP00000362441.4:p.Trp2077Arg
ENST00000395603.7:c.6115T>C	ENSP00000378967.3:p.Trp2039Arg
ENST00000480283.5:c.*5857T>C	ENSP00000480196.1:n.*5857T>C
ENST00000623316.1:c.713T>C
ENST00000623706.3:n.3299T>C
NM_000489.4:c.6229T>C	NP_000480.3:p.Trp2077Arg
NM_138270.3:c.6115T>C	NP_612114.2:p.Trp2039Arg
XM_005262153.3:c.6226T>C	XP_005262210.2:p.Trp2076Arg
XM_005262154.3:c.6142T>C	XP_005262211.2:p.Trp2048Arg
XM_005262155.3:c.6112T>C	XP_005262212.2:p.Trp2038Arg
XM_005262156.3:c.6064T>C	XP_005262213.2:p.Trp2022Arg
XM_005262157.3:c.6025T>C	XP_005262214.2:p.Trp2009Arg
XM_006724666.2:c.6112T>C	XP_006724729.1:p.Trp2038Arg
XM_006724667.2:c.5950T>C	XP_006724730.1:p.Trp1984Arg
XR_938400.1:n.6571T>C
NM_000489.5:c.6229T>C	NP_000480.3:p.Trp2077Arg
XM_005262153.5:c.6226T>C	XP_005262210.2:p.Trp2076Arg
XM_005262154.5:c.6142T>C	XP_005262211.2:p.Trp2048Arg
XM_005262155.4:c.6112T>C	XP_005262212.2:p.Trp2038Arg
XM_005262156.4:c.6064T>C	XP_005262213.2:p.Trp2022Arg
XM_005262157.5:c.6025T>C	XP_005262214.2:p.Trp2009Arg
XM_006724666.4:c.6112T>C	XP_006724729.1:p.Trp2038Arg
XM_006724667.3:c.5950T>C	XP_006724730.1:p.Trp1984Arg
XM_017029601.2:c.6139T>C	XP_016885090.1:p.Trp2047Arg
XM_017029602.1:c.6109T>C	XP_016885091.1:p.Trp2037Arg
XM_017029603.1:c.6061T>C	XP_016885092.1:p.Trp2021Arg
XM_017029604.2:c.6028T>C	XP_016885093.1:p.Trp2010Arg
XM_017029605.1:c.6025T>C	XP_016885094.1:p.Trp2009Arg
XM_017029606.2:c.5998T>C	XP_016885095.1:p.Trp2000Arg
XM_017029607.2:c.5995T>C	XP_016885096.1:p.Trp1999Arg
XM_017029608.2:c.5947T>C	XP_016885097.1:p.Trp1983Arg
XM_017029609.1:c.5911T>C	XP_016885098.1:p.Trp1971Arg
XM_017029610.1:c.5908T>C	XP_016885099.1:p.Trp1970Arg
XM_017029611.1:c.5863T>C	XP_016885100.1:p.Trp1955Arg
XR_001755700.2:n.6528T>C
NM_138270.4:c.6115T>C	NP_612114.2:p.Trp2039Arg
NM_000489.6:c.6229T>C MANE Select	NP_000480.3:p.Trp2077Arg
NM_138270.5:c.6115T>C	NP_612114.2:p.Trp2039Arg