Canonical Allele Identifier: CA413717564

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683731T>A , CM000685.2:g.77683731T>A	GRCh38
NC_000023.10:g.76939223T>A , CM000685.1:g.76939223T>A	GRCh37
NC_000023.9:g.76825879T>A	NCBI36
NG_008838.2:g.107491A>T
NG_008838.3:g.107539A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1525A>T MANE Select	NP_000480.3:p.Thr509Ser
ENST00000373344.11:c.1525A>T MANE Select	ENSP00000362441.4:p.Thr509Ser
NM_000489.4:c.1525A>T	NP_000480.3:p.Thr509Ser
NM_000489.5:c.1525A>T	NP_000480.3:p.Thr509Ser
NM_138270.3:c.1411A>T	NP_612114.2:p.Thr471Ser
NM_138270.4:c.1411A>T	NP_612114.2:p.Thr471Ser
NM_138270.5:c.1411A>T	NP_612114.2:p.Thr471Ser
ENST00000373344.9:c.1525A>T	ENSP00000362441.4:p.Thr509Ser
ENST00000395603.7:c.1411A>T	ENSP00000378967.3:p.Thr471Ser
ENST00000480283.5:c.*1153A>T	ENSP00000480196.1:n.*1153A>T
ENST00000623321.3:c.1360A>T	ENSP00000485127.1:p.Thr454Ser
ENST00000624032.3:c.1525A>T	ENSP00000485253.1:p.Thr509Ser
ENST00000624166.3:c.1408A>T	ENSP00000485103.1:p.Thr470Ser
XM_005262153.3:c.1522A>T	XP_005262210.2:p.Thr508Ser
XM_005262153.5:c.1522A>T	XP_005262210.2:p.Thr508Ser
XM_005262154.3:c.1525A>T	XP_005262211.2:p.Thr509Ser
XM_005262154.5:c.1525A>T	XP_005262211.2:p.Thr509Ser
XM_005262155.3:c.1408A>T	XP_005262212.2:p.Thr470Ser
XM_005262155.4:c.1408A>T	XP_005262212.2:p.Thr470Ser
XM_005262156.3:c.1360A>T	XP_005262213.2:p.Thr454Ser
XM_005262156.4:c.1360A>T	XP_005262213.2:p.Thr454Ser
XM_005262157.3:c.1408A>T	XP_005262214.2:p.Thr470Ser
XM_005262157.5:c.1408A>T	XP_005262214.2:p.Thr470Ser
XM_006724666.2:c.1408A>T	XP_006724729.1:p.Thr470Ser
XM_006724666.4:c.1408A>T	XP_006724729.1:p.Thr470Ser
XM_006724667.2:c.1246A>T	XP_006724730.1:p.Thr416Ser
XM_006724667.3:c.1246A>T	XP_006724730.1:p.Thr416Ser
XM_006724668.2:c.1525A>T	XP_006724731.1:p.Thr509Ser
XM_006724668.3:c.1525A>T	XP_006724731.1:p.Thr509Ser
XM_017029601.2:c.1522A>T	XP_016885090.1:p.Thr508Ser
XM_017029602.1:c.1405A>T	XP_016885091.1:p.Thr469Ser
XM_017029603.1:c.1357A>T	XP_016885092.1:p.Thr453Ser
XM_017029604.2:c.1411A>T	XP_016885093.1:p.Thr471Ser
XM_017029605.1:c.1408A>T	XP_016885094.1:p.Thr470Ser
XM_017029606.2:c.1294A>T	XP_016885095.1:p.Thr432Ser
XM_017029607.2:c.1291A>T	XP_016885096.1:p.Thr431Ser
XM_017029608.2:c.1243A>T	XP_016885097.1:p.Thr415Ser
XM_017029609.1:c.1294A>T	XP_016885098.1:p.Thr432Ser
XM_017029610.1:c.1291A>T	XP_016885099.1:p.Thr431Ser
XM_017029611.1:c.1246A>T	XP_016885100.1:p.Thr416Ser
XR_001755700.2:n.1750A>T
XR_938400.1:n.1793A>T