Canonical Allele Identifier: CA413708304

Gene: ATRX

Linked Data

• dbSNP Id: rs2069280980
• MyVariant Identifiers: chrX:g.76907725T>A (hg19) ; chrX:g.77652235T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652235T>A , CM000685.2:g.77652235T>A	GRCh38
NC_000023.10:g.76907725T>A , CM000685.1:g.76907725T>A	GRCh37
NC_000023.9:g.76794381T>A	NCBI36
NG_008838.2:g.138987A>T
NG_008838.3:g.139035A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4436A>T MANE Select	ENSP00000362441.4:p.Lys1479Ile
ENST00000373344.9:c.4436A>T	ENSP00000362441.4:p.Lys1479Ile
ENST00000395603.7:c.4322A>T	ENSP00000378967.3:p.Lys1441Ile
ENST00000480283.5:c.*4064A>T	ENSP00000480196.1:n.*4064A>T
ENST00000623242.3:c.42A>T
NM_000489.4:c.4436A>T	NP_000480.3:p.Lys1479Ile
NM_138270.3:c.4322A>T	NP_612114.2:p.Lys1441Ile
XM_005262153.3:c.4433A>T	XP_005262210.2:p.Lys1478Ile
XM_005262154.3:c.4349A>T	XP_005262211.2:p.Lys1450Ile
XM_005262155.3:c.4319A>T	XP_005262212.2:p.Lys1440Ile
XM_005262156.3:c.4271A>T	XP_005262213.2:p.Lys1424Ile
XM_005262157.3:c.4232A>T	XP_005262214.2:p.Lys1411Ile
XM_006724666.2:c.4319A>T	XP_006724729.1:p.Lys1440Ile
XM_006724667.2:c.4157A>T	XP_006724730.1:p.Lys1386Ile
XM_006724668.2:c.4436A>T	XP_006724731.1:p.Lys1479Ile
XR_938400.1:n.4704A>T
NM_000489.5:c.4436A>T	NP_000480.3:p.Lys1479Ile
XM_005262153.5:c.4433A>T	XP_005262210.2:p.Lys1478Ile
XM_005262154.5:c.4349A>T	XP_005262211.2:p.Lys1450Ile
XM_005262155.4:c.4319A>T	XP_005262212.2:p.Lys1440Ile
XM_005262156.4:c.4271A>T	XP_005262213.2:p.Lys1424Ile
XM_005262157.5:c.4232A>T	XP_005262214.2:p.Lys1411Ile
XM_006724666.4:c.4319A>T	XP_006724729.1:p.Lys1440Ile
XM_006724667.3:c.4157A>T	XP_006724730.1:p.Lys1386Ile
XM_006724668.3:c.4436A>T	XP_006724731.1:p.Lys1479Ile
XM_017029601.2:c.4346A>T	XP_016885090.1:p.Lys1449Ile
XM_017029602.1:c.4316A>T	XP_016885091.1:p.Lys1439Ile
XM_017029603.1:c.4268A>T	XP_016885092.1:p.Lys1423Ile
XM_017029604.2:c.4235A>T	XP_016885093.1:p.Lys1412Ile
XM_017029605.1:c.4232A>T	XP_016885094.1:p.Lys1411Ile
XM_017029606.2:c.4205A>T	XP_016885095.1:p.Lys1402Ile
XM_017029607.2:c.4202A>T	XP_016885096.1:p.Lys1401Ile
XM_017029608.2:c.4154A>T	XP_016885097.1:p.Lys1385Ile
XM_017029609.1:c.4118A>T	XP_016885098.1:p.Lys1373Ile
XM_017029610.1:c.4115A>T	XP_016885099.1:p.Lys1372Ile
XM_017029611.1:c.4070A>T	XP_016885100.1:p.Lys1357Ile
XR_001755700.2:n.4661A>T
NM_138270.4:c.4322A>T	NP_612114.2:p.Lys1441Ile
NM_000489.6:c.4436A>T MANE Select	NP_000480.3:p.Lys1479Ile
NM_138270.5:c.4322A>T	NP_612114.2:p.Lys1441Ile