Canonical Allele Identifier: CA413701043

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829757C>G (hg19) ; chrX:g.77574292C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574292C>G , CM000685.2:g.77574292C>G	GRCh38
NC_000023.10:g.76829757C>G , CM000685.1:g.76829757C>G	GRCh37
NC_000023.9:g.76716413C>G	NCBI36
NG_008838.2:g.216930G>C
NG_008838.3:g.216978G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6284G>C MANE Select	ENSP00000362441.4:p.Arg2095Thr
ENST00000675732.1:c.1382G>C	ENSP00000502598.1:p.Arg461Thr
ENST00000373344.9:c.6284G>C	ENSP00000362441.4:p.Arg2095Thr
ENST00000395603.7:c.6170G>C	ENSP00000378967.3:p.Arg2057Thr
ENST00000480283.5:c.*5912G>C	ENSP00000480196.1:n.*5912G>C
ENST00000623316.1:c.768G>C
ENST00000623706.3:n.3354G>C
NM_000489.4:c.6284G>C	NP_000480.3:p.Arg2095Thr
NM_138270.3:c.6170G>C	NP_612114.2:p.Arg2057Thr
XM_005262153.3:c.6281G>C	XP_005262210.2:p.Arg2094Thr
XM_005262154.3:c.6197G>C	XP_005262211.2:p.Arg2066Thr
XM_005262155.3:c.6167G>C	XP_005262212.2:p.Arg2056Thr
XM_005262156.3:c.6119G>C	XP_005262213.2:p.Arg2040Thr
XM_005262157.3:c.6080G>C	XP_005262214.2:p.Arg2027Thr
XM_006724666.2:c.6167G>C	XP_006724729.1:p.Arg2056Thr
XM_006724667.2:c.6005G>C	XP_006724730.1:p.Arg2002Thr
XR_938400.1:n.6626G>C
NM_000489.5:c.6284G>C	NP_000480.3:p.Arg2095Thr
XM_005262153.5:c.6281G>C	XP_005262210.2:p.Arg2094Thr
XM_005262154.5:c.6197G>C	XP_005262211.2:p.Arg2066Thr
XM_005262155.4:c.6167G>C	XP_005262212.2:p.Arg2056Thr
XM_005262156.4:c.6119G>C	XP_005262213.2:p.Arg2040Thr
XM_005262157.5:c.6080G>C	XP_005262214.2:p.Arg2027Thr
XM_006724666.4:c.6167G>C	XP_006724729.1:p.Arg2056Thr
XM_006724667.3:c.6005G>C	XP_006724730.1:p.Arg2002Thr
XM_017029601.2:c.6194G>C	XP_016885090.1:p.Arg2065Thr
XM_017029602.1:c.6164G>C	XP_016885091.1:p.Arg2055Thr
XM_017029603.1:c.6116G>C	XP_016885092.1:p.Arg2039Thr
XM_017029604.2:c.6083G>C	XP_016885093.1:p.Arg2028Thr
XM_017029605.1:c.6080G>C	XP_016885094.1:p.Arg2027Thr
XM_017029606.2:c.6053G>C	XP_016885095.1:p.Arg2018Thr
XM_017029607.2:c.6050G>C	XP_016885096.1:p.Arg2017Thr
XM_017029608.2:c.6002G>C	XP_016885097.1:p.Arg2001Thr
XM_017029609.1:c.5966G>C	XP_016885098.1:p.Arg1989Thr
XM_017029610.1:c.5963G>C	XP_016885099.1:p.Arg1988Thr
XM_017029611.1:c.5918G>C	XP_016885100.1:p.Arg1973Thr
XR_001755700.2:n.6583G>C
NM_138270.4:c.6170G>C	NP_612114.2:p.Arg2057Thr
NM_000489.6:c.6284G>C MANE Select	NP_000480.3:p.Arg2095Thr
NM_138270.5:c.6170G>C	NP_612114.2:p.Arg2057Thr