Canonical Allele Identifier: CA517471506

Gene: ATRX

Linked Data

• ClinVar Variation Id: 2917154
• ClinVar RCV Id: RCV003625049
• dbSNP Id: rs2069289410
• MyVariant Identifiers: chrX:g.76907802C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652312C>T , CM000685.2:g.77652312C>T	GRCh38
NC_000023.10:g.76907802C>T , CM000685.1:g.76907802C>T	GRCh37
NC_000023.9:g.76794458C>T	NCBI36
NG_008838.2:g.138910G>A
NG_008838.3:g.138958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4359G>A MANE Select	ENSP00000362441.4:p.Glu1453=
ENST00000373344.9:c.4359G>A	ENSP00000362441.4:p.Glu1453=
ENST00000395603.7:c.4245G>A	ENSP00000378967.3:p.Glu1415=
ENST00000480283.5:c.*3987G>A	ENSP00000480196.1:n.*3987G>A
NM_000489.4:c.4359G>A	NP_000480.3:p.Glu1453=
NM_138270.3:c.4245G>A	NP_612114.2:p.Glu1415=
XM_005262153.3:c.4356G>A	XP_005262210.2:p.Glu1452=
XM_005262154.3:c.4272G>A	XP_005262211.2:p.Glu1424=
XM_005262155.3:c.4242G>A	XP_005262212.2:p.Glu1414=
XM_005262156.3:c.4194G>A	XP_005262213.2:p.Glu1398=
XM_005262157.3:c.4155G>A	XP_005262214.2:p.Glu1385=
XM_006724666.2:c.4242G>A	XP_006724729.1:p.Glu1414=
XM_006724667.2:c.4080G>A	XP_006724730.1:p.Glu1360=
XM_006724668.2:c.4359G>A	XP_006724731.1:p.Glu1453=
XR_938400.1:n.4627G>A
NM_000489.5:c.4359G>A	NP_000480.3:p.Glu1453=
XM_005262153.5:c.4356G>A	XP_005262210.2:p.Glu1452=
XM_005262154.5:c.4272G>A	XP_005262211.2:p.Glu1424=
XM_005262155.4:c.4242G>A	XP_005262212.2:p.Glu1414=
XM_005262156.4:c.4194G>A	XP_005262213.2:p.Glu1398=
XM_005262157.5:c.4155G>A	XP_005262214.2:p.Glu1385=
XM_006724666.4:c.4242G>A	XP_006724729.1:p.Glu1414=
XM_006724667.3:c.4080G>A	XP_006724730.1:p.Glu1360=
XM_006724668.3:c.4359G>A	XP_006724731.1:p.Glu1453=
XM_017029601.2:c.4269G>A	XP_016885090.1:p.Glu1423=
XM_017029602.1:c.4239G>A	XP_016885091.1:p.Glu1413=
XM_017029603.1:c.4191G>A	XP_016885092.1:p.Glu1397=
XM_017029604.2:c.4158G>A	XP_016885093.1:p.Glu1386=
XM_017029605.1:c.4155G>A	XP_016885094.1:p.Glu1385=
XM_017029606.2:c.4128G>A	XP_016885095.1:p.Glu1376=
XM_017029607.2:c.4125G>A	XP_016885096.1:p.Glu1375=
XM_017029608.2:c.4077G>A	XP_016885097.1:p.Glu1359=
XM_017029609.1:c.4041G>A	XP_016885098.1:p.Glu1347=
XM_017029610.1:c.4038G>A	XP_016885099.1:p.Glu1346=
XM_017029611.1:c.3993G>A	XP_016885100.1:p.Glu1331=
XR_001755700.2:n.4584G>A
NM_138270.4:c.4245G>A	NP_612114.2:p.Glu1415=
NM_000489.6:c.4359G>A MANE Select	NP_000480.3:p.Glu1453=
NM_138270.5:c.4245G>A	NP_612114.2:p.Glu1415=