Canonical Allele Identifier: CA517374744

Gene: ATRX

Linked Data

• COSMIC: COSM462178 ; COSM462179
• MyVariant Identifiers: chrX:g.76829717C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574252C>T , CM000685.2:g.77574252C>T	GRCh38
NC_000023.10:g.76829717C>T , CM000685.1:g.76829717C>T	GRCh37
NC_000023.9:g.76716373C>T	NCBI36
NG_008838.2:g.216970G>A
NG_008838.3:g.217018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6324G>A MANE Select	ENSP00000362441.4:p.Val2108=
ENST00000675732.1:c.1422G>A	ENSP00000502598.1:p.Val474=
ENST00000373344.9:c.6324G>A	ENSP00000362441.4:p.Val2108=
ENST00000395603.7:c.6210G>A	ENSP00000378967.3:p.Val2070=
ENST00000480283.5:c.*5952G>A	ENSP00000480196.1:n.*5952G>A
ENST00000623706.3:n.3394G>A
NM_000489.4:c.6324G>A	NP_000480.3:p.Val2108=
NM_138270.3:c.6210G>A	NP_612114.2:p.Val2070=
XM_005262153.3:c.6321G>A	XP_005262210.2:p.Val2107=
XM_005262154.3:c.6237G>A	XP_005262211.2:p.Val2079=
XM_005262155.3:c.6207G>A	XP_005262212.2:p.Val2069=
XM_005262156.3:c.6159G>A	XP_005262213.2:p.Val2053=
XM_005262157.3:c.6120G>A	XP_005262214.2:p.Val2040=
XM_006724666.2:c.6207G>A	XP_006724729.1:p.Val2069=
XM_006724667.2:c.6045G>A	XP_006724730.1:p.Val2015=
XR_938400.1:n.6666G>A
NM_000489.5:c.6324G>A	NP_000480.3:p.Val2108=
XM_005262153.5:c.6321G>A	XP_005262210.2:p.Val2107=
XM_005262154.5:c.6237G>A	XP_005262211.2:p.Val2079=
XM_005262155.4:c.6207G>A	XP_005262212.2:p.Val2069=
XM_005262156.4:c.6159G>A	XP_005262213.2:p.Val2053=
XM_005262157.5:c.6120G>A	XP_005262214.2:p.Val2040=
XM_006724666.4:c.6207G>A	XP_006724729.1:p.Val2069=
XM_006724667.3:c.6045G>A	XP_006724730.1:p.Val2015=
XM_017029601.2:c.6234G>A	XP_016885090.1:p.Val2078=
XM_017029602.1:c.6204G>A	XP_016885091.1:p.Val2068=
XM_017029603.1:c.6156G>A	XP_016885092.1:p.Val2052=
XM_017029604.2:c.6123G>A	XP_016885093.1:p.Val2041=
XM_017029605.1:c.6120G>A	XP_016885094.1:p.Val2040=
XM_017029606.2:c.6093G>A	XP_016885095.1:p.Val2031=
XM_017029607.2:c.6090G>A	XP_016885096.1:p.Val2030=
XM_017029608.2:c.6042G>A	XP_016885097.1:p.Val2014=
XM_017029609.1:c.6006G>A	XP_016885098.1:p.Val2002=
XM_017029610.1:c.6003G>A	XP_016885099.1:p.Val2001=
XM_017029611.1:c.5958G>A	XP_016885100.1:p.Val1986=
XR_001755700.2:n.6623G>A
NM_138270.4:c.6210G>A	NP_612114.2:p.Val2070=
NM_000489.6:c.6324G>A MANE Select	NP_000480.3:p.Val2108=
NM_138270.5:c.6210G>A	NP_612114.2:p.Val2070=