Canonical Allele Identifier: CA517376416

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77664655T>C , CM000685.2:g.77664655T>C	GRCh38
NC_000023.10:g.76920144T>C , CM000685.1:g.76920144T>C	GRCh37
NC_000023.9:g.76806800T>C	NCBI36
NG_008838.2:g.126567A>G
NG_008838.3:g.126615A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3933A>G MANE Select	NP_000480.3:p.Pro1311=
ENST00000373344.11:c.3933A>G MANE Select	ENSP00000362441.4:p.Pro1311=
NM_000489.4:c.3933A>G	NP_000480.3:p.Pro1311=
NM_000489.5:c.3933A>G	NP_000480.3:p.Pro1311=
NM_138270.3:c.3819A>G	NP_612114.2:p.Pro1273=
NM_138270.4:c.3819A>G	NP_612114.2:p.Pro1273=
NM_138270.5:c.3819A>G	NP_612114.2:p.Pro1273=
ENST00000373344.9:c.3933A>G	ENSP00000362441.4:p.Pro1311=
ENST00000395603.7:c.3819A>G	ENSP00000378967.3:p.Pro1273=
ENST00000480283.5:c.*3561A>G	ENSP00000480196.1:n.*3561A>G
ENST00000624166.3:c.3729A>G	ENSP00000485103.1:p.Pro1243=
XM_005262153.3:c.3930A>G	XP_005262210.2:p.Pro1310=
XM_005262153.5:c.3930A>G	XP_005262210.2:p.Pro1310=
XM_005262154.3:c.3846A>G	XP_005262211.2:p.Pro1282=
XM_005262154.5:c.3846A>G	XP_005262211.2:p.Pro1282=
XM_005262155.3:c.3816A>G	XP_005262212.2:p.Pro1272=
XM_005262155.4:c.3816A>G	XP_005262212.2:p.Pro1272=
XM_005262156.3:c.3768A>G	XP_005262213.2:p.Pro1256=
XM_005262156.4:c.3768A>G	XP_005262213.2:p.Pro1256=
XM_005262157.3:c.3729A>G	XP_005262214.2:p.Pro1243=
XM_005262157.5:c.3729A>G	XP_005262214.2:p.Pro1243=
XM_006724666.2:c.3816A>G	XP_006724729.1:p.Pro1272=
XM_006724666.4:c.3816A>G	XP_006724729.1:p.Pro1272=
XM_006724667.2:c.3654A>G	XP_006724730.1:p.Pro1218=
XM_006724667.3:c.3654A>G	XP_006724730.1:p.Pro1218=
XM_006724668.2:c.3933A>G	XP_006724731.1:p.Pro1311=
XM_006724668.3:c.3933A>G	XP_006724731.1:p.Pro1311=
XM_017029601.2:c.3843A>G	XP_016885090.1:p.Pro1281=
XM_017029602.1:c.3813A>G	XP_016885091.1:p.Pro1271=
XM_017029603.1:c.3765A>G	XP_016885092.1:p.Pro1255=
XM_017029604.2:c.3732A>G	XP_016885093.1:p.Pro1244=
XM_017029605.1:c.3729A>G	XP_016885094.1:p.Pro1243=
XM_017029606.2:c.3702A>G	XP_016885095.1:p.Pro1234=
XM_017029607.2:c.3699A>G	XP_016885096.1:p.Pro1233=
XM_017029608.2:c.3651A>G	XP_016885097.1:p.Pro1217=
XM_017029609.1:c.3615A>G	XP_016885098.1:p.Pro1205=
XM_017029610.1:c.3612A>G	XP_016885099.1:p.Pro1204=
XM_017029611.1:c.3567A>G	XP_016885100.1:p.Pro1189=
XR_001755700.2:n.4158A>G
XR_938400.1:n.4201A>G