Canonical Allele Identifier: CA517473158

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684278T>A , CM000685.2:g.77684278T>A	GRCh38
NC_000023.10:g.76939770T>A , CM000685.1:g.76939770T>A	GRCh37
NC_000023.9:g.76826426T>A	NCBI36
NG_008838.2:g.106944A>T
NG_008838.3:g.106992A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.978A>T MANE Select	NP_000480.3:p.Gly326=
ENST00000373344.11:c.978A>T MANE Select	ENSP00000362441.4:p.Gly326=
NM_000489.4:c.978A>T	NP_000480.3:p.Gly326=
NM_000489.5:c.978A>T	NP_000480.3:p.Gly326=
NM_138270.3:c.864A>T	NP_612114.2:p.Gly288=
NM_138270.4:c.864A>T	NP_612114.2:p.Gly288=
NM_138270.5:c.864A>T	NP_612114.2:p.Gly288=
ENST00000373344.9:c.978A>T	ENSP00000362441.4:p.Gly326=
ENST00000395603.7:c.864A>T	ENSP00000378967.3:p.Gly288=
ENST00000480283.5:c.*606A>T	ENSP00000480196.1:n.*606A>T
ENST00000623321.3:c.813A>T	ENSP00000485127.1:p.Gly271=
ENST00000624032.3:c.978A>T	ENSP00000485253.1:p.Gly326=
ENST00000624166.3:c.861A>T	ENSP00000485103.1:p.Gly287=
XM_005262153.3:c.975A>T	XP_005262210.2:p.Gly325=
XM_005262153.5:c.975A>T	XP_005262210.2:p.Gly325=
XM_005262154.3:c.978A>T	XP_005262211.2:p.Gly326=
XM_005262154.5:c.978A>T	XP_005262211.2:p.Gly326=
XM_005262155.3:c.861A>T	XP_005262212.2:p.Gly287=
XM_005262155.4:c.861A>T	XP_005262212.2:p.Gly287=
XM_005262156.3:c.813A>T	XP_005262213.2:p.Gly271=
XM_005262156.4:c.813A>T	XP_005262213.2:p.Gly271=
XM_005262157.3:c.861A>T	XP_005262214.2:p.Gly287=
XM_005262157.5:c.861A>T	XP_005262214.2:p.Gly287=
XM_006724666.2:c.861A>T	XP_006724729.1:p.Gly287=
XM_006724666.4:c.861A>T	XP_006724729.1:p.Gly287=
XM_006724667.2:c.699A>T	XP_006724730.1:p.Gly233=
XM_006724667.3:c.699A>T	XP_006724730.1:p.Gly233=
XM_006724668.2:c.978A>T	XP_006724731.1:p.Gly326=
XM_006724668.3:c.978A>T	XP_006724731.1:p.Gly326=
XM_017029601.2:c.975A>T	XP_016885090.1:p.Gly325=
XM_017029602.1:c.858A>T	XP_016885091.1:p.Gly286=
XM_017029603.1:c.810A>T	XP_016885092.1:p.Gly270=
XM_017029604.2:c.864A>T	XP_016885093.1:p.Gly288=
XM_017029605.1:c.861A>T	XP_016885094.1:p.Gly287=
XM_017029606.2:c.747A>T	XP_016885095.1:p.Gly249=
XM_017029607.2:c.744A>T	XP_016885096.1:p.Gly248=
XM_017029608.2:c.696A>T	XP_016885097.1:p.Gly232=
XM_017029609.1:c.747A>T	XP_016885098.1:p.Gly249=
XM_017029610.1:c.744A>T	XP_016885099.1:p.Gly248=
XM_017029611.1:c.699A>T	XP_016885100.1:p.Gly233=
XR_001755700.2:n.1203A>T
XR_938400.1:n.1246A>T