Canonical Allele Identifier: CA331569057

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684010C>T , CM000685.2:g.77684010C>T	GRCh38
NC_000023.10:g.76939502C>T , CM000685.1:g.76939502C>T	GRCh37
NC_000023.9:g.76826158C>T	NCBI36
NG_008838.2:g.107212G>A
NG_008838.3:g.107260G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1246G>A MANE Select	NP_000480.3:p.Glu416Lys
ENST00000373344.11:c.1246G>A MANE Select	ENSP00000362441.4:p.Glu416Lys
NM_000489.4:c.1246G>A	NP_000480.3:p.Glu416Lys
NM_000489.5:c.1246G>A	NP_000480.3:p.Glu416Lys
NM_138270.3:c.1132G>A	NP_612114.2:p.Glu378Lys
NM_138270.4:c.1132G>A	NP_612114.2:p.Glu378Lys
NM_138270.5:c.1132G>A	NP_612114.2:p.Glu378Lys
ENST00000373344.9:c.1246G>A	ENSP00000362441.4:p.Glu416Lys
ENST00000395603.7:c.1132G>A	ENSP00000378967.3:p.Glu378Lys
ENST00000480283.5:c.*874G>A	ENSP00000480196.1:n.*874G>A
ENST00000623321.3:c.1081G>A	ENSP00000485127.1:p.Glu361Lys
ENST00000624032.3:c.1246G>A	ENSP00000485253.1:p.Glu416Lys
ENST00000624166.3:c.1129G>A	ENSP00000485103.1:p.Glu377Lys
XM_005262153.3:c.1243G>A	XP_005262210.2:p.Glu415Lys
XM_005262153.5:c.1243G>A	XP_005262210.2:p.Glu415Lys
XM_005262154.3:c.1246G>A	XP_005262211.2:p.Glu416Lys
XM_005262154.5:c.1246G>A	XP_005262211.2:p.Glu416Lys
XM_005262155.3:c.1129G>A	XP_005262212.2:p.Glu377Lys
XM_005262155.4:c.1129G>A	XP_005262212.2:p.Glu377Lys
XM_005262156.3:c.1081G>A	XP_005262213.2:p.Glu361Lys
XM_005262156.4:c.1081G>A	XP_005262213.2:p.Glu361Lys
XM_005262157.3:c.1129G>A	XP_005262214.2:p.Glu377Lys
XM_005262157.5:c.1129G>A	XP_005262214.2:p.Glu377Lys
XM_006724666.2:c.1129G>A	XP_006724729.1:p.Glu377Lys
XM_006724666.4:c.1129G>A	XP_006724729.1:p.Glu377Lys
XM_006724667.2:c.967G>A	XP_006724730.1:p.Glu323Lys
XM_006724667.3:c.967G>A	XP_006724730.1:p.Glu323Lys
XM_006724668.2:c.1246G>A	XP_006724731.1:p.Glu416Lys
XM_006724668.3:c.1246G>A	XP_006724731.1:p.Glu416Lys
XM_017029601.2:c.1243G>A	XP_016885090.1:p.Glu415Lys
XM_017029602.1:c.1126G>A	XP_016885091.1:p.Glu376Lys
XM_017029603.1:c.1078G>A	XP_016885092.1:p.Glu360Lys
XM_017029604.2:c.1132G>A	XP_016885093.1:p.Glu378Lys
XM_017029605.1:c.1129G>A	XP_016885094.1:p.Glu377Lys
XM_017029606.2:c.1015G>A	XP_016885095.1:p.Glu339Lys
XM_017029607.2:c.1012G>A	XP_016885096.1:p.Glu338Lys
XM_017029608.2:c.964G>A	XP_016885097.1:p.Glu322Lys
XM_017029609.1:c.1015G>A	XP_016885098.1:p.Glu339Lys
XM_017029610.1:c.1012G>A	XP_016885099.1:p.Glu338Lys
XM_017029611.1:c.967G>A	XP_016885100.1:p.Glu323Lys
XR_001755700.2:n.1471G>A
XR_938400.1:n.1514G>A