Canonical Allele Identifier: CA413716749

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683529G>T , CM000685.2:g.77683529G>T	GRCh38
NC_000023.10:g.76939021G>T , CM000685.1:g.76939021G>T	GRCh37
NC_000023.9:g.76825677G>T	NCBI36
NG_008838.2:g.107693C>A
NG_008838.3:g.107741C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1727C>A MANE Select	NP_000480.3:p.Ser576Ter
ENST00000373344.11:c.1727C>A MANE Select	ENSP00000362441.4:p.Ser576Ter
NM_000489.4:c.1727C>A	NP_000480.3:p.Ser576Ter
NM_000489.5:c.1727C>A	NP_000480.3:p.Ser576Ter
NM_138270.3:c.1613C>A	NP_612114.2:p.Ser538Ter
NM_138270.4:c.1613C>A	NP_612114.2:p.Ser538Ter
NM_138270.5:c.1613C>A	NP_612114.2:p.Ser538Ter
ENST00000373344.9:c.1727C>A	ENSP00000362441.4:p.Ser576Ter
ENST00000395603.7:c.1613C>A	ENSP00000378967.3:p.Ser538Ter
ENST00000480283.5:c.*1355C>A	ENSP00000480196.1:n.*1355C>A
ENST00000623321.3:c.1562C>A	ENSP00000485127.1:p.Ser521Ter
ENST00000624032.3:c.1717+10C>A	ENSP00000485253.1:n.1717+10C>A
ENST00000624166.3:c.1600+10C>A	ENSP00000485103.1:n.1600+10C>A
XM_005262153.3:c.1724C>A	XP_005262210.2:p.Ser575Ter
XM_005262153.5:c.1724C>A	XP_005262210.2:p.Ser575Ter
XM_005262154.3:c.1717+10C>A	XP_005262211.2:n.1717+10C>A
XM_005262154.5:c.1717+10C>A	XP_005262211.2:n.1717+10C>A
XM_005262155.3:c.1610C>A	XP_005262212.2:p.Ser537Ter
XM_005262155.4:c.1610C>A	XP_005262212.2:p.Ser537Ter
XM_005262156.3:c.1562C>A	XP_005262213.2:p.Ser521Ter
XM_005262156.4:c.1562C>A	XP_005262213.2:p.Ser521Ter
XM_005262157.3:c.1600+10C>A	XP_005262214.2:n.1600+10C>A
XM_005262157.5:c.1600+10C>A	XP_005262214.2:n.1600+10C>A
XM_006724666.2:c.1610C>A	XP_006724729.1:p.Ser537Ter
XM_006724666.4:c.1610C>A	XP_006724729.1:p.Ser537Ter
XM_006724667.2:c.1448C>A	XP_006724730.1:p.Ser483Ter
XM_006724667.3:c.1448C>A	XP_006724730.1:p.Ser483Ter
XM_006724668.2:c.1727C>A	XP_006724731.1:p.Ser576Ter
XM_006724668.3:c.1727C>A	XP_006724731.1:p.Ser576Ter
XM_017029601.2:c.1714+10C>A	XP_016885090.1:n.1714+10C>A
XM_017029602.1:c.1607C>A	XP_016885091.1:p.Ser536Ter
XM_017029603.1:c.1559C>A	XP_016885092.1:p.Ser520Ter
XM_017029604.2:c.1603+10C>A	XP_016885093.1:n.1603+10C>A
XM_017029605.1:c.1600+10C>A	XP_016885094.1:n.1600+10C>A
XM_017029606.2:c.1496C>A	XP_016885095.1:p.Ser499Ter
XM_017029607.2:c.1493C>A	XP_016885096.1:p.Ser498Ter
XM_017029608.2:c.1445C>A	XP_016885097.1:p.Ser482Ter
XM_017029609.1:c.1486+10C>A	XP_016885098.1:n.1486+10C>A
XM_017029610.1:c.1483+10C>A	XP_016885099.1:n.1483+10C>A
XM_017029611.1:c.1438+10C>A	XP_016885100.1:n.1438+10C>A
XR_001755700.2:n.1952C>A
XR_938400.1:n.1995C>A