Canonical Allele Identifier: CA413708782

Gene: ATRX

Linked Data

• dbSNP Id: rs1941634051
• MyVariant Identifiers: chrX:g.76907799T>A (hg19) ; chrX:g.77652309T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652309T>A , CM000685.2:g.77652309T>A	GRCh38
NC_000023.10:g.76907799T>A , CM000685.1:g.76907799T>A	GRCh37
NC_000023.9:g.76794455T>A	NCBI36
NG_008838.2:g.138913A>T
NG_008838.3:g.138961A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4362A>T MANE Select	ENSP00000362441.4:p.Glu1454Asp
ENST00000373344.9:c.4362A>T	ENSP00000362441.4:p.Glu1454Asp
ENST00000395603.7:c.4248A>T	ENSP00000378967.3:p.Glu1416Asp
ENST00000480283.5:c.*3990A>T	ENSP00000480196.1:n.*3990A>T
NM_000489.4:c.4362A>T	NP_000480.3:p.Glu1454Asp
NM_138270.3:c.4248A>T	NP_612114.2:p.Glu1416Asp
XM_005262153.3:c.4359A>T	XP_005262210.2:p.Glu1453Asp
XM_005262154.3:c.4275A>T	XP_005262211.2:p.Glu1425Asp
XM_005262155.3:c.4245A>T	XP_005262212.2:p.Glu1415Asp
XM_005262156.3:c.4197A>T	XP_005262213.2:p.Glu1399Asp
XM_005262157.3:c.4158A>T	XP_005262214.2:p.Glu1386Asp
XM_006724666.2:c.4245A>T	XP_006724729.1:p.Glu1415Asp
XM_006724667.2:c.4083A>T	XP_006724730.1:p.Glu1361Asp
XM_006724668.2:c.4362A>T	XP_006724731.1:p.Glu1454Asp
XR_938400.1:n.4630A>T
NM_000489.5:c.4362A>T	NP_000480.3:p.Glu1454Asp
XM_005262153.5:c.4359A>T	XP_005262210.2:p.Glu1453Asp
XM_005262154.5:c.4275A>T	XP_005262211.2:p.Glu1425Asp
XM_005262155.4:c.4245A>T	XP_005262212.2:p.Glu1415Asp
XM_005262156.4:c.4197A>T	XP_005262213.2:p.Glu1399Asp
XM_005262157.5:c.4158A>T	XP_005262214.2:p.Glu1386Asp
XM_006724666.4:c.4245A>T	XP_006724729.1:p.Glu1415Asp
XM_006724667.3:c.4083A>T	XP_006724730.1:p.Glu1361Asp
XM_006724668.3:c.4362A>T	XP_006724731.1:p.Glu1454Asp
XM_017029601.2:c.4272A>T	XP_016885090.1:p.Glu1424Asp
XM_017029602.1:c.4242A>T	XP_016885091.1:p.Glu1414Asp
XM_017029603.1:c.4194A>T	XP_016885092.1:p.Glu1398Asp
XM_017029604.2:c.4161A>T	XP_016885093.1:p.Glu1387Asp
XM_017029605.1:c.4158A>T	XP_016885094.1:p.Glu1386Asp
XM_017029606.2:c.4131A>T	XP_016885095.1:p.Glu1377Asp
XM_017029607.2:c.4128A>T	XP_016885096.1:p.Glu1376Asp
XM_017029608.2:c.4080A>T	XP_016885097.1:p.Glu1360Asp
XM_017029609.1:c.4044A>T	XP_016885098.1:p.Glu1348Asp
XM_017029610.1:c.4041A>T	XP_016885099.1:p.Glu1347Asp
XM_017029611.1:c.3996A>T	XP_016885100.1:p.Glu1332Asp
XR_001755700.2:n.4587A>T
NM_138270.4:c.4248A>T	NP_612114.2:p.Glu1416Asp
NM_000489.6:c.4362A>T MANE Select	NP_000480.3:p.Glu1454Asp
NM_138270.5:c.4248A>T	NP_612114.2:p.Glu1416Asp