Canonical Allele Identifier: CA413701249

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829805C>G (hg19) ; chrX:g.77574340C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574340C>G , CM000685.2:g.77574340C>G	GRCh38
NC_000023.10:g.76829805C>G , CM000685.1:g.76829805C>G	GRCh37
NC_000023.9:g.76716461C>G	NCBI36
NG_008838.2:g.216882G>C
NG_008838.3:g.216930G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6236G>C MANE Select	ENSP00000362441.4:p.Arg2079Pro
ENST00000636152.1:n.71G>C
ENST00000675732.1:c.1334G>C	ENSP00000502598.1:p.Arg445Pro
ENST00000373344.9:c.6236G>C	ENSP00000362441.4:p.Arg2079Pro
ENST00000395603.7:c.6122G>C	ENSP00000378967.3:p.Arg2041Pro
ENST00000480283.5:c.*5864G>C	ENSP00000480196.1:n.*5864G>C
ENST00000623316.1:c.720G>C
ENST00000623706.3:n.3306G>C
NM_000489.4:c.6236G>C	NP_000480.3:p.Arg2079Pro
NM_138270.3:c.6122G>C	NP_612114.2:p.Arg2041Pro
XM_005262153.3:c.6233G>C	XP_005262210.2:p.Arg2078Pro
XM_005262154.3:c.6149G>C	XP_005262211.2:p.Arg2050Pro
XM_005262155.3:c.6119G>C	XP_005262212.2:p.Arg2040Pro
XM_005262156.3:c.6071G>C	XP_005262213.2:p.Arg2024Pro
XM_005262157.3:c.6032G>C	XP_005262214.2:p.Arg2011Pro
XM_006724666.2:c.6119G>C	XP_006724729.1:p.Arg2040Pro
XM_006724667.2:c.5957G>C	XP_006724730.1:p.Arg1986Pro
XR_938400.1:n.6578G>C
NM_000489.5:c.6236G>C	NP_000480.3:p.Arg2079Pro
XM_005262153.5:c.6233G>C	XP_005262210.2:p.Arg2078Pro
XM_005262154.5:c.6149G>C	XP_005262211.2:p.Arg2050Pro
XM_005262155.4:c.6119G>C	XP_005262212.2:p.Arg2040Pro
XM_005262156.4:c.6071G>C	XP_005262213.2:p.Arg2024Pro
XM_005262157.5:c.6032G>C	XP_005262214.2:p.Arg2011Pro
XM_006724666.4:c.6119G>C	XP_006724729.1:p.Arg2040Pro
XM_006724667.3:c.5957G>C	XP_006724730.1:p.Arg1986Pro
XM_017029601.2:c.6146G>C	XP_016885090.1:p.Arg2049Pro
XM_017029602.1:c.6116G>C	XP_016885091.1:p.Arg2039Pro
XM_017029603.1:c.6068G>C	XP_016885092.1:p.Arg2023Pro
XM_017029604.2:c.6035G>C	XP_016885093.1:p.Arg2012Pro
XM_017029605.1:c.6032G>C	XP_016885094.1:p.Arg2011Pro
XM_017029606.2:c.6005G>C	XP_016885095.1:p.Arg2002Pro
XM_017029607.2:c.6002G>C	XP_016885096.1:p.Arg2001Pro
XM_017029608.2:c.5954G>C	XP_016885097.1:p.Arg1985Pro
XM_017029609.1:c.5918G>C	XP_016885098.1:p.Arg1973Pro
XM_017029610.1:c.5915G>C	XP_016885099.1:p.Arg1972Pro
XM_017029611.1:c.5870G>C	XP_016885100.1:p.Arg1957Pro
XR_001755700.2:n.6535G>C
NM_138270.4:c.6122G>C	NP_612114.2:p.Arg2041Pro
NM_000489.6:c.6236G>C MANE Select	NP_000480.3:p.Arg2079Pro
NM_138270.5:c.6122G>C	NP_612114.2:p.Arg2041Pro