Canonical Allele Identifier: CA413720584

Gene: ATRX

Linked Data

• dbSNP Id: rs2148637317
• MyVariant Identifiers: chrX:g.76939931A>T (hg19) ; chrX:g.77684439A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684439A>T , CM000685.2:g.77684439A>T	GRCh38
NC_000023.10:g.76939931A>T , CM000685.1:g.76939931A>T	GRCh37
NC_000023.9:g.76826587A>T	NCBI36
NG_008838.2:g.106783T>A
NG_008838.3:g.106831T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.817T>A MANE Select	ENSP00000362441.4:p.Leu273Met
ENST00000373344.9:c.817T>A	ENSP00000362441.4:p.Leu273Met
ENST00000395603.7:c.703T>A	ENSP00000378967.3:p.Leu235Met
ENST00000480283.5:c.*445T>A	ENSP00000480196.1:n.*445T>A
ENST00000623321.3:c.652T>A	ENSP00000485127.1:p.Leu218Met
ENST00000624032.3:c.817T>A	ENSP00000485253.1:p.Leu273Met
ENST00000624166.3:c.700T>A	ENSP00000485103.1:p.Leu234Met
NM_000489.4:c.817T>A	NP_000480.3:p.Leu273Met
NM_138270.3:c.703T>A	NP_612114.2:p.Leu235Met
XM_005262153.3:c.814T>A	XP_005262210.2:p.Leu272Met
XM_005262154.3:c.817T>A	XP_005262211.2:p.Leu273Met
XM_005262155.3:c.700T>A	XP_005262212.2:p.Leu234Met
XM_005262156.3:c.652T>A	XP_005262213.2:p.Leu218Met
XM_005262157.3:c.700T>A	XP_005262214.2:p.Leu234Met
XM_006724666.2:c.700T>A	XP_006724729.1:p.Leu234Met
XM_006724667.2:c.538T>A	XP_006724730.1:p.Leu180Met
XM_006724668.2:c.817T>A	XP_006724731.1:p.Leu273Met
XR_938400.1:n.1085T>A
NM_000489.5:c.817T>A	NP_000480.3:p.Leu273Met
XM_005262153.5:c.814T>A	XP_005262210.2:p.Leu272Met
XM_005262154.5:c.817T>A	XP_005262211.2:p.Leu273Met
XM_005262155.4:c.700T>A	XP_005262212.2:p.Leu234Met
XM_005262156.4:c.652T>A	XP_005262213.2:p.Leu218Met
XM_005262157.5:c.700T>A	XP_005262214.2:p.Leu234Met
XM_006724666.4:c.700T>A	XP_006724729.1:p.Leu234Met
XM_006724667.3:c.538T>A	XP_006724730.1:p.Leu180Met
XM_006724668.3:c.817T>A	XP_006724731.1:p.Leu273Met
XM_017029601.2:c.814T>A	XP_016885090.1:p.Leu272Met
XM_017029602.1:c.697T>A	XP_016885091.1:p.Leu233Met
XM_017029603.1:c.649T>A	XP_016885092.1:p.Leu217Met
XM_017029604.2:c.703T>A	XP_016885093.1:p.Leu235Met
XM_017029605.1:c.700T>A	XP_016885094.1:p.Leu234Met
XM_017029606.2:c.586T>A	XP_016885095.1:p.Leu196Met
XM_017029607.2:c.583T>A	XP_016885096.1:p.Leu195Met
XM_017029608.2:c.535T>A	XP_016885097.1:p.Leu179Met
XM_017029609.1:c.586T>A	XP_016885098.1:p.Leu196Met
XM_017029610.1:c.583T>A	XP_016885099.1:p.Leu195Met
XM_017029611.1:c.538T>A	XP_016885100.1:p.Leu180Met
XR_001755700.2:n.1042T>A
NM_138270.4:c.703T>A	NP_612114.2:p.Leu235Met
NM_000489.6:c.817T>A MANE Select	NP_000480.3:p.Leu273Met
NM_138270.5:c.703T>A	NP_612114.2:p.Leu235Met