Canonical Allele Identifier: CA413700940

Gene: ATRX

Linked Data

• COSMIC: COSM230827 ; COSM230828
• MyVariant Identifiers: chrX:g.76829740C>T (hg19) ; chrX:g.77574275C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574275C>T , CM000685.2:g.77574275C>T	GRCh38
NC_000023.10:g.76829740C>T , CM000685.1:g.76829740C>T	GRCh37
NC_000023.9:g.76716396C>T	NCBI36
NG_008838.2:g.216947G>A
NG_008838.3:g.216995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6301G>A MANE Select	ENSP00000362441.4:p.Glu2101Lys
ENST00000675732.1:c.1399G>A	ENSP00000502598.1:p.Glu467Lys
ENST00000373344.9:c.6301G>A	ENSP00000362441.4:p.Glu2101Lys
ENST00000395603.7:c.6187G>A	ENSP00000378967.3:p.Glu2063Lys
ENST00000480283.5:c.*5929G>A	ENSP00000480196.1:n.*5929G>A
ENST00000623316.1:c.785G>A
ENST00000623706.3:n.3371G>A
NM_000489.4:c.6301G>A	NP_000480.3:p.Glu2101Lys
NM_138270.3:c.6187G>A	NP_612114.2:p.Glu2063Lys
XM_005262153.3:c.6298G>A	XP_005262210.2:p.Glu2100Lys
XM_005262154.3:c.6214G>A	XP_005262211.2:p.Glu2072Lys
XM_005262155.3:c.6184G>A	XP_005262212.2:p.Glu2062Lys
XM_005262156.3:c.6136G>A	XP_005262213.2:p.Glu2046Lys
XM_005262157.3:c.6097G>A	XP_005262214.2:p.Glu2033Lys
XM_006724666.2:c.6184G>A	XP_006724729.1:p.Glu2062Lys
XM_006724667.2:c.6022G>A	XP_006724730.1:p.Glu2008Lys
XR_938400.1:n.6643G>A
NM_000489.5:c.6301G>A	NP_000480.3:p.Glu2101Lys
XM_005262153.5:c.6298G>A	XP_005262210.2:p.Glu2100Lys
XM_005262154.5:c.6214G>A	XP_005262211.2:p.Glu2072Lys
XM_005262155.4:c.6184G>A	XP_005262212.2:p.Glu2062Lys
XM_005262156.4:c.6136G>A	XP_005262213.2:p.Glu2046Lys
XM_005262157.5:c.6097G>A	XP_005262214.2:p.Glu2033Lys
XM_006724666.4:c.6184G>A	XP_006724729.1:p.Glu2062Lys
XM_006724667.3:c.6022G>A	XP_006724730.1:p.Glu2008Lys
XM_017029601.2:c.6211G>A	XP_016885090.1:p.Glu2071Lys
XM_017029602.1:c.6181G>A	XP_016885091.1:p.Glu2061Lys
XM_017029603.1:c.6133G>A	XP_016885092.1:p.Glu2045Lys
XM_017029604.2:c.6100G>A	XP_016885093.1:p.Glu2034Lys
XM_017029605.1:c.6097G>A	XP_016885094.1:p.Glu2033Lys
XM_017029606.2:c.6070G>A	XP_016885095.1:p.Glu2024Lys
XM_017029607.2:c.6067G>A	XP_016885096.1:p.Glu2023Lys
XM_017029608.2:c.6019G>A	XP_016885097.1:p.Glu2007Lys
XM_017029609.1:c.5983G>A	XP_016885098.1:p.Glu1995Lys
XM_017029610.1:c.5980G>A	XP_016885099.1:p.Glu1994Lys
XM_017029611.1:c.5935G>A	XP_016885100.1:p.Glu1979Lys
XR_001755700.2:n.6600G>A
NM_138270.4:c.6187G>A	NP_612114.2:p.Glu2063Lys
NM_000489.6:c.6301G>A MANE Select	NP_000480.3:p.Glu2101Lys
NM_138270.5:c.6187G>A	NP_612114.2:p.Glu2063Lys