Canonical Allele Identifier: CA517471479

Gene: ATRX

Linked Data

• ClinVar Variation Id: 751760
• ClinVar RCV Id: RCV000928856
• dbSNP Id: rs1603084380
• MyVariant Identifiers: chrX:g.76907739T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652249T>G , CM000685.2:g.77652249T>G	GRCh38
NC_000023.10:g.76907739T>G , CM000685.1:g.76907739T>G	GRCh37
NC_000023.9:g.76794395T>G	NCBI36
NG_008838.2:g.138973A>C
NG_008838.3:g.139021A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4422A>C MANE Select	ENSP00000362441.4:p.Gly1474=
ENST00000373344.9:c.4422A>C	ENSP00000362441.4:p.Gly1474=
ENST00000395603.7:c.4308A>C	ENSP00000378967.3:p.Gly1436=
ENST00000480283.5:c.*4050A>C	ENSP00000480196.1:n.*4050A>C
ENST00000623242.3:c.28A>C
NM_000489.4:c.4422A>C	NP_000480.3:p.Gly1474=
NM_138270.3:c.4308A>C	NP_612114.2:p.Gly1436=
XM_005262153.3:c.4419A>C	XP_005262210.2:p.Gly1473=
XM_005262154.3:c.4335A>C	XP_005262211.2:p.Gly1445=
XM_005262155.3:c.4305A>C	XP_005262212.2:p.Gly1435=
XM_005262156.3:c.4257A>C	XP_005262213.2:p.Gly1419=
XM_005262157.3:c.4218A>C	XP_005262214.2:p.Gly1406=
XM_006724666.2:c.4305A>C	XP_006724729.1:p.Gly1435=
XM_006724667.2:c.4143A>C	XP_006724730.1:p.Gly1381=
XM_006724668.2:c.4422A>C	XP_006724731.1:p.Gly1474=
XR_938400.1:n.4690A>C
NM_000489.5:c.4422A>C	NP_000480.3:p.Gly1474=
XM_005262153.5:c.4419A>C	XP_005262210.2:p.Gly1473=
XM_005262154.5:c.4335A>C	XP_005262211.2:p.Gly1445=
XM_005262155.4:c.4305A>C	XP_005262212.2:p.Gly1435=
XM_005262156.4:c.4257A>C	XP_005262213.2:p.Gly1419=
XM_005262157.5:c.4218A>C	XP_005262214.2:p.Gly1406=
XM_006724666.4:c.4305A>C	XP_006724729.1:p.Gly1435=
XM_006724667.3:c.4143A>C	XP_006724730.1:p.Gly1381=
XM_006724668.3:c.4422A>C	XP_006724731.1:p.Gly1474=
XM_017029601.2:c.4332A>C	XP_016885090.1:p.Gly1444=
XM_017029602.1:c.4302A>C	XP_016885091.1:p.Gly1434=
XM_017029603.1:c.4254A>C	XP_016885092.1:p.Gly1418=
XM_017029604.2:c.4221A>C	XP_016885093.1:p.Gly1407=
XM_017029605.1:c.4218A>C	XP_016885094.1:p.Gly1406=
XM_017029606.2:c.4191A>C	XP_016885095.1:p.Gly1397=
XM_017029607.2:c.4188A>C	XP_016885096.1:p.Gly1396=
XM_017029608.2:c.4140A>C	XP_016885097.1:p.Gly1380=
XM_017029609.1:c.4104A>C	XP_016885098.1:p.Gly1368=
XM_017029610.1:c.4101A>C	XP_016885099.1:p.Gly1367=
XM_017029611.1:c.4056A>C	XP_016885100.1:p.Gly1352=
XR_001755700.2:n.4647A>C
NM_138270.4:c.4308A>C	NP_612114.2:p.Gly1436=
NM_000489.6:c.4422A>C MANE Select	NP_000480.3:p.Gly1474=
NM_138270.5:c.4308A>C	NP_612114.2:p.Gly1436=